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Breaking News

Attention—this just in! When we have something important to announce, this is where we’ll do it. We’re happy to keep you informed, so be sure to come back and visit this section often. You never know what you might discover.

Please choose from the news articles below:

  • Amid advances in gene therapy, ‘bubble baby’ in SF gains hope

    Earlier this year, Ja’Ceon became the first baby at UCSF Benioff Children’s Hospital at Mission Bay to undergo an experimental gene therapy treatment that, doctors hope, will nudge his body to build a new, robust immune system.

    The treatment given to Ja’Ceon is the result of decades of research into gene therapy that included a string of striking failures that led many doctors to abandon the pursuit altogether.

    Gene therapy long had been considered a potential treatment for severe combined immunodeficiency disorder, or SCID, the condition Ja’Ceon was born with, and some other genetic syndromes.

    The idea is to replace a single gene that’s causing trouble.

    Read the full story here.

  • Jeffrey Modell Foundation publishes New Manuscript: Modeling Strategy to ID patients with PI

    Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement

    This study seeks to generate better insights into how to achieve earliest possible diagnosis, using elements and components from the JMCN, the 10 Warning Signs, the 4 Stages of Testing Algorithm, pubic and physician awareness and education, the SPIRIT® Analyzer, and newborn screening.

    This manuscript indicates that the data results do not occur by chance, and that there is a better than a 95% probability that the data are valid.

    Read the full manuscript, here.

  • FDA Approves Bio Products Laboratory’s Gammaplex® 10% for Treatment of Primary immunodeficiency and Chronic Immune Thrombocytopenic Purpura

    "BPL is pleased to have played a role in the treatment of patients with PI in the U.S. since 2009," saidEric Wolford, PharmD, Vice President of Global Medical Affairs for BPL.  "As we developed this new treatment option, it was important that we created a unique study design that would provide new safety and tolerability data for patients and healthcare providers to consider when they choose an IVIG product."

    Read the full press release here.

  • X4 Pharmaceuticals Announces Initiation of a Phase 2/3 Clinical Study of X4P-001-LD in Patients with WHIM Syndrome, a Rare Genetic Primary Immunodeficiency Disease

    X4 Pharmaceuticals announced the initiation of a Phase 2/3 study for the treatment of WHIM syndrome. The company is developing X4P-001-LD, a low dose formulation of X4P-001 that is currently in clinical development for the treatment of certain cancers, for use as a chronic treatment for patients with WHIM Syndrome.

    “We are very pleased with the rapid progress across clinical, regulatory and formulation development that has resulted in X4 initiating this clinical study to evaluate the potential for our CXCR4 drug candidate to treat WHIM syndrome,” said Paula Ragan, PhD, President and CEO of X4. “The initiation of this Phase 2/3 study is a critical milestone in developing a potentially life-changing therapeutic for WHIM patients who otherwise have no therapeutic options.”

    Read the press release here.

  • Jennifer Doudna and Emmanuelle Charpentier Receive Japan Prize for CRISPR-Cas9

    Drs. Doudna and Charpentier have been named laureates of the famed Japan Prize for their work discovering CRISPR (clustered regularly interspaced short palindromic repeats.)

    Read the full press release here.

  • Gene Therapy Saves SCID Baby

    Infants born with Severe Combined Immune Deficiency (SCID) benefit from gene therapy.

    One child who did benefit from the latest developments is four-year-old Khalifa Al Qemzi, who was treated in the UK, by Dr. Bobby Gaspar of Great Ormond Street Hospital.

    Read the full story here.

  • Research Cracks Genetic Driver of Patient’s Rare Immune Disorder

    “We’re entering a new era of genomic medicine,” said Jennifer Puck, MD, UCSF professor of immunology and pediatrics, a pediatric immunologist at UCSF Health and senior author of the new study. “Our technology has progressed to the point that we can learn a great deal about a disease, and even learn important new facts about normal biology, from just a single patient. In this case we were able to unearth the potentially unique underlying genetic cause of one patient’s disease and come away with brand new understanding of how the immune system develops.”

    Read the full story here.

  • Genomic approaches can provide answers to undiagnosed primary immunodeficiency diseases.

    An international team of physician-researchers set out to change the approach by which they genetically diagnose Primary Immunodeficiencies.

    The researchers used a comprehensive genomic analysis to identify genes potentially causing nearly 280 undiagnosed PIs.

    Read the full story here.

  • Scientists find gene variants causing NK cell deficiency, solving 12 year-long mystery for a family

    An international team of scientists has solved a medical mystery that has affected a family for more than 40 years.

    Click here to read the full story.

  • Global PI Village "Spotlight" Series: Bethany Metzroth

    Name: Bethany Metzroth

    When did you start working with the JMF?  Children’s National started working with the Jeffrey Modell Foundation in 2014. One of our social workers in our Blood and Marrow Transplantation Unit was worried about how we were going to support the basic needs of a family under our care.  She heard great things about the Roots & Wings program so she reached out to Vicki.  Our social worker was amazed by the generosity, kindness, and responsiveness of the Jeffrey Modell Foundation.  A couple months later I had the pleasure of meeting several members of the foundation.  I’ve grown to love each and every one of them.  When we visit with Vicki, Fred, and Vanessa it feels like we’re with family – we’re bound by a passion and commitment to the most important mission of all – children’s health!

    Profession and Location:  Development, Children’s National Health System, Washington, DC

    What inspires you?  The patients and families we care for inspire me!  Kids are so resilient and brave, and their parents are the greatest advocates. They become experts in a disease that was once foreign to them and somehow remain positive in the wake of heartbreaking news.  Their determination and love for one another inspire me, as does the clinical team and researchers who are constantly searching for better treatments.

    What aspect of JMF do you find most special?  Jeffrey Modell Foundation is unique in that it is committed to all aspects of the primary immunodeficiency community – supporting efforts in advocacy, education, research, patient care and support services. JMF recognizes that when a child is sick it affects so many things and the foundation is committed to every child with the disease.

    What’s your favorite JMF memory?  I love sitting around the Jeffrey Modell Foundation conference room and sharing stories with the team.  Vicki and Fred remember every child, every family, and every researcher they’ve met. Their stories inspire our team to do more!  I love our time together.

    Favorite Quote:  “Be the change that you wish to see in the world” – Mahatma Gandhi

    Share a little bit about yourself with the JMF community!  I have worked at Children’s National for over 6 years now.  Before joining Children’s National as an employee I was a patient care volunteer.  The hospital feels like home to me. I grew up in Washington, DC and visited the hospital many times as a young child as my dad works there as a cardiologist. Whenever I am there I am reminded of how fortunate I am. That is why I am devoted to improving the lives of the children we treat.

  • Shire launches CUVITRU™ [Immune Globulin Subcutaneous (Human), 20% Solution] in the U.S. for Primary Immunodeficiency

    Read the full story here.

  • Global PI Village "Spotlight" Series: Dr. Michael Keller

    Name: Michael Keller

    When did you start working with the JMF?  I first began working with the Jeffrey Modell Foundation after receiving a Translational Research Award to support my group’s work in adoptive T-cell immunotherapy to combat viral infections in patients with primary immunodeficiency.  This award was really instrumental in allowing us to begin several of our clinical protocols. 

    Profession and Location:  Pediatric Allergy & Immunology, Children’s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, Tel 202-476-2140, Fax: 202-476-2280

    What inspires you?  I really enjoy reading biographies, and am most inspired by those who succeed through hard work and intellect, but can also put aside their ego in order to achieve their goals.   Lincoln is a particular hero of mine – I loved “Team of Rivals.”   I have also been extremely blessed to have outstanding mentors over the course of my career – Drs. Rebecca Buckley, Kate Sullivan, Jordan Orange, and Catherine Bollard - and I look up to all of them as models of what successful physician-scientists can accomplish in our field.                    

    What aspect of JMF do you find most special?  I love the dedication of Vicki, Fred, and everyone at the Jeffrey Modell Foundation to improving the lives of children with primary immunodeficiencies.  They are such extraordinary advocates for our patients, both in supporting advances in science and in directly helping our families through programs like Roots and Wings.  

    What’s your favorite JMF memory?  The first time that I heard Vicki and Fred speak about Jeffrey, and about the founding of the Jeffrey Modell Foundation, was at their dedication of the endowed chair position for my mentor, Dr. Jordan Orange.  That was really touching and inspiring. 

    Favorite Quote:  “An investment in knowledge pays the best interest” –Benjamin Franklin

    Share a little bit about yourself with the JMF community!  When I’m not at the hospital or in the lab, I’m either spending time with my wife and son, traveling, or working out.  I’m a lifelong student of several martial arts, which I still practice.  

  • JMF’s Newest Call to Action… a Global Resolution!

    The Jeffrey Modell Foundation celebrated its 30th Birthday in June with a four-day Global Summit in Los Angeles, California.  More than 275 world-renowned Immunologists and scientists from 52 countries gathered to share their research, as well as, their expertise in the diagnosis, treatment, and management of Primary Immunodeficiencies.

    At the conclusion of the Summit, a Call to Action… a Global Resolution, was drafted and has been signed by hundreds of physician experts.

    To view the full document, click here.

  • Newly discovered, rare immunodeficiency yields unexpected insights into the immune system

    An international team of scientists led by Dr. Kaan Boztug gained fundamentally new insights into the human immune system by studying a newly discovered mutation, RASGPR1. 

    Dr. Kaan Boztug, from CeMM Research Institute for Molecular Medicine of the Austrian Academy of Sciences, the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the Medical University at Vienna, is also joint director of the Jeffrey Modell Center for Immunodeficiencies in Vienna, Austria.

    Read the full press release here!

  • Global PI Village "Spotlight" Series: Pere Soler-Palacin, MD, PhD, MsC

    Name: Pere Soler-Palacin, MD, PhD, MsC

    When did you start working with the JMF?  We started data sharing in 2007 and have been recognized as a Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies in 2016

    Profession and Location:  Pediatric Immunologist. Head of the Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Assistant Professor, Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.

    ++

    What inspires you?  In my daily work, there are two main sources of inspiration. The first is the feeling that nothing can be as important as saving a child’s life. That led me more than 20 years ago to start my studies in Medicine and Pediatrics and remains as a leitmotiv running through my mind.  The second is the personal need to reach the excellence in my daily practice. It does not matter if we are talking about medical care, research or teaching, I always try to do my best since many people are expecting that from me.

    Moreover, my beloved family encourages me to keep on struggling for PI patients and their families.

    What aspect of JMF do you find most special?  The JMF is not a foundation to me, it is a family and I am so proud to be a little part of it. When I first met Vicki and Fred, I realized that they would do anything they could to help patients with PI and their families independently of the place in the world they were living, their gender, sex or economic status. They will always look for you whatever you may need.

    What’s your favorite JMF memory?  I have to admit that my favorite JMF memory comes from the dedication day at our center. It was an incredible mix of feelings. I was so proud to show Vicki, Fred and Vanessa our clinics, all the professionals, the patients and their families… and, at the same, time I got really nervous just thinking that something could have gone wrong. At the end, it was a wonderful day that all the people involved in the care of patients with PI will remember during all their life.

    Favorite Quote:  Doing what you like is Freedom, liking what you do is Happiness

    Share a little bit about yourself with the JMF community!  I have been a pediatrician for almost 15 years working in the field of infectious diseases and primary and secondary immunodeficiencies. I am so lucky to work with a group of incredible professionals at my hospital.  We share our devotion for patients and work as a team to offer our best to patients and their families.

    I have lived in Barcelona, Catalonia, since I was born and I love my little country and its history passionately.  It is not surprising that I love the sea and if I could just ask for a single moment in my life, I would choose sharing a good dinner beside the sea with my family and friends.

    http://downloads.info4pi.org/images/vfm-and-pere-resize-900x1065-5804ff7546c51-original
    JMF Co-Founders, Vicki & Fred Modell along with Dr. Pere Soler-Palacin
    at the Jeffrey Modell Diagnostic & Research Center Dedication
    at Hospital Vall d'Hebron in Barcelona, September 20, 2016.

    http://downloads.info4pi.org/images/5a-resize-900x506-5804fe40ac71f-original
    Primary Immunodeficiency Team at Hospital Vall d'Hebron!

  • Immunodeficiency diseases in children more common than previously thought

    UCLA’s Mattel Children’s Hospital recently shared an article, reinforcing the ideology that Primary Immunodeficiency is more common than previously thought.  This is why it’s so important to know the 10 Warning Signs and to stay informed.

    Read the full article here.

  • Wonderful Opportunity for Pediatric Immunologist

    http://downloads.info4pi.org/images/Pediatric-Immunology-Position-in-Portland-resize-900x1314-57f6ad75f17f4-original

  • Back To School!

    It’s that time of year again... it’s Back to School!

    At JMF, our mission is to spread awareness and educate everyone about Primary Immunodeficiency.  What better time than “Back to School” to do just that!?

    With the new school year approaching many students and their parents make sure to prepare with new notebooks, new clothes, and new pencils.  A new school year means new teachers and new classmates.  Meeting new people can be exciting and scary all at the same time. 

    For children and teenagers with Primary Immunodeficiency, this means there is a new group of people to share their diagnosis with... and JMF is here to help you explain PI!

    Whether it’s the 10 Warning Signs, Facts & Questions about Primary Immunodeficiency, or the Immune System – teaching classmates, teachers, school nurses, and other school personnel is helpful for everyone!

    Remember, school is a place to learn… and the teachers don’t have to be the only ones teaching things!

    You can find all of our educational materials online and by sharing them with your new friends, you can help achieve earliest possible diagnosis and save children's lives! 

    This school year, make sure to educate your new teachers and classmates all about Primary Immunodeficiency!!

    About PI     FAQs     10 Warning Signs

    http://downloads.info4pi.org/images/JM-globe-boy-back-to-school-crayon-border-resize-750x504-57bc629b89ac3-original

    http://downloads.info4pi.org/images/school-bus-resize-744x960-57ed7908adc60-original

  • Meet the Youngest Faces of JMF’s “When I Grow Up” PSA Campaign!

    We are excited to share our When I Grow Up PSA Campaign extension, featuring infants and expressing the importance of Newborn Screening for Severe Combined Immune Deficiency (SCID).  Often to referred to as "Bubble Boy Disease", SCID is the most serious form of Primary Immunodeficiency, in which infants fail to develop an immune system.  Undetected and untreated could die before their first birthday, but with Newborn Screening, they can be diagnosed and cured!  These infants and their families now have an opportunity to turn tears into laughter, and fears into wonder.

    While this topic is very serious and this condition can be fatal, our new PSAs focus on the hope and optimism that Newborn Screening provides, and showcase that when properly tested, diagnosed and treated, all infants have the chance to be, to dream, and to live a full and healthy life!

    Using the same sentiment of When I Grow Up, these ads speak to the importance of screening newborns for SCID.  Providing important information to the public in an uplifting manner is what we strive to do!

    This screen allows babies to be diagnosed, treated and in some cases cured; the chance to grow up healthy, and the opportunity to “be” and dream of their future!  We are proud to introduce you to Lily, Andy, Cassie, and Jake!
    http://downloads.info4pi.org/images/4-babies-grey-resize-702x264-576992e7b5c5f-originalThese new PSA’s will be circulating around the country on Television, Radio, Airports, Magazines and more!  We can’t wait for you to experience the magnificent and informative message these PSA’s provide, and we know you’ll love them as much as we do!

    ..And remember, if you see our PSA’s when you’re out and about, take a photo and share it with us on Facebook or Twitter using the #JMF and #Spotted hashtags! 

    http://downloads.info4pi.org/images/JMF_Baby_Jake_H_031816_sRGB_h500px-resize-773x500-5769518d879ef-original http://downloads.info4pi.org/images/JMF_Baby_Lily_H_031716_h500px-resize-773x500-5769519437bf3-original
    http://downloads.info4pi.org/images/JMF_Baby_Andy_H_031816_sRGB_h500px-resize-773x500-5769517fe338a-original http://downloads.info4pi.org/images/JMF_Baby_Cassie_H_031716_sRGB_h500px-resize-773x500-576951865a4f1-original

    See the print ads en Español!

    http://downloads.info4pi.org/images/JMF_Baby_Jake_H_Spanish_041216_sRGB-resize-899x582-5769969642962-original http://downloads.info4pi.org/images/Untitled-5-resize-837x543-5769991811fa2-original

  • Clinical Trial Opportunity for Patients with Chronic Mucocutaneous Candidiasis

    Clinical Trial Opportunity for Patients with Chronic Mucocutaneous Candidiasis

    Chronic Mucocutaneous Candidiasis often results from an underlying immune deficiency that leads to abnormalities in a person’s control of fungal infections such as candida.  Investigators at NIAID are seeking people with chronic mucocutaneous candidiasis (oropharyngeal, esophageal or vulvovaginal candidiasis) that are refractory or intolerant to standard non-intravenous therapies to participate in a clinical research trial.  For additional information please contact Dr. Alexandra Freeman (freemaal@mail.nih.gov) or see https://clinicaltrials.gov/ct2/show/NCT02629419.

  • A Major Breakthrough in Lowering Costs to Test More Than 1,000 Genes

    The cost of genetic testing has plummeted. Yet it is still out of reach for thousands of patients and their families.

    Invitae, a San Francisco based biotech company, recently addressed this problem by announcing an expansion of genetic tests for more than 60 pediatric disorders, including Severe Combined Immunodeficiency (SCID) and related T cell Lymphopenia. With this expanded test menu, Invitae will be able to provide clinicians, patients, and payers with high-quality genetic information for a greatly expanded number of genes and disorders, all at the same price and with rapid turnaround time. The new panels will be available immediately to children’s hospitals, pediatricians, and medical genetics professionals for clinical diagnosis and care.

    According to CEO Randy Scott, “Invitae is aggregating a large number of genetic tests into a single platform. Today, labs test patients gene by gene. That gets expensive when the patient has a multi genetic disease or a set of symptoms caused by a variety of genetic conditions. Historically, just a single gene test is in the $1,000 range. We look at up to 1,000 genes, which gives improved economics. We hope to one day become the Amazon of genetics.”

    Most “in network” tests are available at $950 for the entire menu. For patients without insurance, the testing menu is offered for $475 when the clinician orders the tests. The highest price for genetic tests is $1,500 for out of network providers.

    “This development is pointing to the day when we can very quickly test newborns for any genetic condition that might put them at risk early in life,” according to Dr. Robert Nussbaum, Invitae’s Chief Medical Officer, who is a practicing medical geneticist at UCSF.

    He added, “Having seen so many parents searching tirelessly for answers for their children suffering from pediatric and rare conditions, my colleagues and I at Invitae are excited to be able to provide comprehensive, high-quality tests at prices that families can afford. Often a genetic test can provide these parents with definitive answers as to what is happening with their child, and the sooner we can get these answers, the more management options become available to the patient and the family. This can make all the difference to a child’s health and quality of life, and to a parent’s peace of mind.”

    Read the full press release, here

  • A Badge of Honor, introducing the Rooster Racing JMF Edition Cycling Jersey

    Once again, our dear friend Steve Bursley is bringing awareness about Primary Immunodeficiency in a new and exciting way.

    Every year, Steve participates in his traditional “One Tough Ride”, a 508-mile non-stop bicycle race, dedicated to his son Nicholas who has Primary Immunodeficiency.  Along with his cycling team, the Racing Roosters, Steve is an amazing athlete who has participated in endurance bicycle races all around the country 

    Steve’s devotion to his son, Nicholas and his passion to bring attention and support to the PI Community is inspiring.

    However, recently Steve and the Rooster Racing organization shared an idea that has truly touched everyone at the Foundation.  They expressed that in an effort to continue to raise awareness about PI, they decided to honor Jeffrey’s Foundation by creating a special edition Rooster Racing JMF Edition cycling jersey!  

    We are so excited about the opportunity to have Jeffrey’s name be worn as a “Badge of Honor” by someone whose friendship we are so grateful for and whose passion inspires us!  

    The jersey is spectacular and features JMF logos and signature burgundy color!  Our message of “Hope. Advocacy. Action.” can now be worn by athletes and participants everywhere to help spread awareness and educate the public about PI!  

    We are so touched and honored by Steve’s passion and invaluable contributions to support PI patients everywhere!

    Let’s follow this “one great human being” as he competes in “one tough ride”! Website & Blog - Facebook - Twitter - Instagram

    The Rooster Racing JMF Edition cycling jersey is now available on the Rooster Racing Gear Store at https://roosterracing.wazala.com !

    Do Good. Ride Hard. Live Well.

    http://downloads.info4pi.org/images/Jersey-Front---Back-Outlined-resize-888x444-571671079a2e9-original

  • Jeffrey Modell Foundation Launches New “When I Grow Up” PSA Campaign!

    http://downloads.info4pi.org/images/ballerina-cartoon-and-PSA-resize-412x288-5693ccdcb2668-originalWe are thrilled to announce that we have just launched three brand new PSAs! The new creative continues to highlight the importance of early testing, detection, and diagnosis of Primary Immunodeficiency. Test, Diagnose, Treat…

    Building on the success of our original campaign, we are proud to welcome Olivia, an enchanting ballerina, Ben, a determined doctor, and Sam, a passionate teacher, to the “When I Grow Up” family.

    Co-Founder Vicki Modell shares, “Fortunately we have been able to reach thousands of families across the country with our “When I Grow Up” Campaigns, and our newest PSAs contain an emotional element that is sure to resonate with the public to help achieve earliest possible diagnosis and save children’s lives.”http://downloads.info4pi.org/images/doctor-cartoon-and-PSA-resize-419x288-5693cce2473e8-original

    Education and awareness are part of JMF’s mission.  One of the most successful ways we achieve this is through our PSA Campaigns.  Providing information about PI to the public in a creative and uplifting manner, is what we strive to do!

    “Our PSAs encourage a call to action!  Education leads to greater Awareness, Awareness leads to Diagnosis, Diagnosis leads to Appropriate Treatment, Appropriate Treatment leads to a better quality of life!” explains Co-Founder Fred Modell.

    http://downloads.info4pi.org/images/teacher-cartoon-and-PSA-resize-441x288-5693cce7dd8ec-originalThese three new PSA’s will be circulating on Television, Radio, Print, Malls, and Airports!  We can’t wait for you to experience the magnificent and informative message these PSAs provide, and we know you’ll love them as much as we do!

    ..And remember, if you see our PSAs when you’re out and about, take a photo and share it with us on Facebook or Twitter using the #JMF and #Spotted hashtags!

  • Gene mutation implicated in rare immunodeficiency

    An international research team sequenced genomes of children from two families in Kuwait and Saudi Arabia affected by a genetically undiagnosed form of combined immunodeficiency (CID), a serious disease in which combined deficiency of T and B lymphocytes can lead to life-threatening infections1

    Dr. Raif Geha, Chief of Allergy, Immunology, Rheumatology & Dermatology at Children's Hospital Boston expresses “The surprising finding was that red cell development, which is known to be dependent on TfR1, was relatively well preserved.”

    Read the entire article here.

  • SCID Baby Cured in California!

    Dr. Donald Kohn, Professor of Microbiology, Immunology, Molecular Genetics, Pediatrics Ronald Reagan UCLA Medical Center, has successfully cured another SCID baby!

    Evangelina Padilla-Vaccaro, was born with ADA-deficient SCID and underwent a new gene-therapy treatment developed by Dr. Kohn that aims to restore the immune systems of children with ADA-deficient SCID using their own stem cells.

    Evangelina is 1 of 18 children who have been cured after receiving the therapy in clinical trials.

    Read more about this story, here!

    FOLLOW UP!!!

    Now 3 years old, doctors say Evangelina is in "perfect health".

    Dr. Kohn is currently working with the FDA to make his treatment available nationwide. He's also testing the same method as a cure for sickle cell disease. Clinical trials for that treatment are now underway.

    Read more about Dr. Kohn’s treatment for Evangelina, here!

  • Genomics Can Improve Health Care--Right Now

    From the past... to the present... and to the future…

    Dr. Kevin Strauss of the Clinic for Special Children shares a tale of three sisters and offers a glimpse into how, with the right systems in place, genomics research can already be applied to alleviate human suffering.

    Read the full story, here.

  • CVID: Springville woman on finding the path to diagnosis

    “Life isn’t just manageable, it’s joyful again. There’s hope on the other side of diagnosis. Diagnosis is not the end of the world, it’s the beginning.” -Susanna Kirby

    Read Susanna Kirby’s story, here.

  • Building Immune System Memory

    A study led by the University of Utah School of Medicine has identified molecular mechanisms that control an immune cell’s ability to remember. They found that in helper T (CD4+) cells, the proteins Oct1 and OCA-B work together to put immune response genes on standby so that they are easily activated when the body is re-exposed to a pathogen. The research, which could inform strategies for developing better vaccines, was performed in collaboration with scientists from The Broad Institute and University of Michigan, and published in The Journal of Experimental Medicine.

    Read the full article, here.

  • Avoid Late PI Diagnosis: Physician Toolkit

    It is estimated that many Americans will get a late diagnosis at least once in their lives.  Many times, these people have Primary Immunodeficiency.

    The most important goals of the Jeffrey Modell Foundation is educating the public, spreading awareness, and helping bring earliest possible diagnosis to patients.

    Over the last several years the field of immunology has grown! The Jeffrey Modell Foundation has translated educational materials in over 45 languages and the understanding of PI has greatly advanced with the discovery of new defects and treatment options.

    However, there is never a point at which we stop teaching, researching, learning, and advocating!   Educating the public about Primary Immunodeficiency is so important, and this includes physicians as well!

    We live in a world where we are learning new things every day!  It is important to remember that while our physicians are brilliant, capable, and special… they too live in a world where new information is discovered everyday!

    Jeffrey Modell Foundation educational materials teach the public about the 10 Warning Signs of Primary Immunodeficiency, the 4 stages of testing, and the components that make up our Immune System – both for children and adults!

    In the past we have teamed up with the National Association of School Nurses to help them identify students with possible PI, as school nurses are usually the first medical professional young children visit when they are not feeling well. 

    The next step after a patient visits a school nurse, would be visiting a primary or specialty doctor.  This is why we are excited to share our educational toolkit for specialty doctors!

    The clinical presentation of PI can be diverse. However, there are symptoms that can appear in specific organs and systems that could lead to PI suspicion.  It is important for physicians to be knowledgeable so they can recognize potential warning signs of Primary Immunodeficiency.

    Most people do not visit an immunologist when they are first coming down with something.  This is why educating all doctors, pediatric or adult; whether they work in a hospital, a private practice, or make home visits, is important and helpful for everyone!

    The Jeffrey Modell Foundation is excited to share a “Diagnostic Algorithm for Specialty Care Physicians”, available in English, Spanish, and Portuguese! Created by Expert Immunologists Dr. Juan Aldave from Peru and Dr. Beatriz Carvalho from Brazil!  Sharing this toolkit with physicians may help avoid late PI diagnosis and provide patients with the opportunity to receive appropriate treatment sooner!

    http://downloads.info4pi.org/images/PI-WS-for-Doc---English-resize-375x608-54de117f081eb-original     http://downloads.info4pi.org/images/PI-WS-for-Doc---Spanish-resize-373x608-54de118636b59-original     http://downloads.info4pi.org/images/portuguese-algorithm-resize-510x608-563224cfd7b48-original

  • Immunoglobulins: Explained!

    Many PI disorders are treated with Immunoglobulins, either intravenously (IVIG) or subcutaneously (subQ) – but do you know what Immunoglobulins are?http://downloads.info4pi.org/images/immunoglobulin-resize-300x187-56094e8b0ba90-original

    Together, let’s begin to explore the basic understanding of what Immunoglobulins are, and the role they play in our immune system!

    Immunoglobulins, or antibodies, are Y-shaped glycoprotein molecules proteins produced by white blood cells known as B cells or B lymphocytes to recognize and bind to specific antigens.

    This immune function is produced as soon as an antigen, a foreign substance or toxin, enters the body. When the immune system lacks these proteins, the affected individual is vulnerable to infection.  This is what happens to many patients with PI.

    Immunoglobulins are produced in 5 different varieties: IgA, IgD, IgE, IgG, and IgM.

    1. Immunoglobulin A (IgA) plays a role in the immunity of mucous membranes from invasion by potentially pathogenic microbes. IgA helps protect your nose, ears, eyes, lungs, and more!
    2. Immunoglobulin D (IgD) helps signal for the activation of B cells in the event that an immune defense is needed.  IgD is produced in a secreted form that is found in very small amounts in blood serum.
    3. Immunoglobulin E (IgE) plays a role in the immunity of parasites.
    4. Immunoglobulin G (IgG) is found in blood and extracellular fluid (body fluid that is not contained in cells) allowing it to control infection of body tissues.
    5. Immunoglobulin M (IgM) is the first antibody to appear in response to initial exposure to a foreign substance or toxin, like bacteria, viruses, parasites, or fungi. IgM is the largest antibody in the human circulatory system and is produced in the spleen.

    http://downloads.info4pi.org/images/GAMED-immunoglobulin---small-resize-250x224-56094e3571194-originalSometimes it may be tricky to remember the 5 different kinds of Immunoglobulins, but we’re going to teach you a helpful tip!  If you rearrange the letters that identify each Immunoglobulin (IgA, IgD, IgE, IgG, IgM) you can spell the word GAMED!

    When someone has PI, their body doesn’t always produce the necessary levels of Immunoglobulins to help their Immune System fight off infections.  Through IVIG or subQ, PI patients are able to raise their Immunoglobulin levels.

    This is why being a blood or plasma donor is so important! Immunoglobulins are found in the plasma of your blood.  The Immunoglobulins taken from a donor are then turned into lifesaving treatment!

     

    To learn more about Immunoglobulins, visit eBioScience.

    To learn about becoming a plasma donor, visit the Plasma Protein Therapeutics Association (PPTA).

  • Newborn Screening is Vital for Children with SCID

    Dr. Bobby Gaspar, Professor of paediatrics and immunology at the UCL Institute of Child Health, explains the importance of Newborn Screening for SCID and how babies who have been identified have the opportunity at a full and healthy life.

    Read the full article, here.

  • 16 year old with Ataxia sets entrepreneurial record!

    16 year old Pakistani Raffay Ansari has set entrepreneurial record with his experience and earnings despite facing a rare disease.

    Raffay is a self-taught programmer and has earned several thousand dollars freelancing online, coded games that have attracted about 8 million cumulative downloads, and is now on the brink of launching his own startup.

    Raffay has Ataxia, and states “The disease is more of a gift to me.  As I can't sleep much at night, I utilize the time learning new things instead.”

    Read more about Raffay’s inspirational story here!

  • Learning More About Common Variable Immunodeficiency (CVID)

    Common Variable Immunodeficiency (CVID) is characterized by frequent bacterial infections, low levels of immunoglobulin, and B-cell dysfunction.

    Specifically, people with CVID have increased occurrences of pneumonias, sinusitis, influenza, and gastrointestinal inflammation.  CVID is diagnosed by measuring for low serum IgG, and sometimes reduced concentration in IgA and IgM.

    CVID comprises a heterogeneous group of diseases of the immune system.A research group led by Dr. Fliegauf and Prof. Dr. Bodo Grimbacher, Scientific Director at the Centre for Chronic Immunodeficiency (CCI) at the University Hospital Freiburg, working on the identification of molecular mechanisms that lead to the reduced antibody production.

    Read more about Dr. Fliegauf and Prof. Dr. Bodo Grimbacher’s research here.

  • Newborn Screening Education Project!

    The Newborn Screening Education project provides healthcare professionals and institutions nationwide with certified continuing medical education opportunities to ensure that every newborn is accurately screened.

    Newborn Screening is a public health activity used for early identification of infants affected by certain genetic, metabolic, hormonal and/or functional conditions. This course covers screening for 29 heritable disorders and genetic diseases performed through dried blood spot testing. Now includes content on SCID!

    Sign up for classes and learn more, here.

  • Global PI Village receives Web Marketing Association’s (WMA) “Outstanding Achievement in Web Development” award!

    Looks like we’ve done it again!

    We are very excited to share that the JMF Global PI Village has won the Web Marketing Association’s (WMA) “Outstanding Achievement in Web Development” award!

    We are always motivated to continue our mission of earliest possible diagnosis, but having our website recognized is a treat for us and the PI Community!  We do what we do for the Community, and we are so happy that other industries and associations recognize us as well.

    We are thankful for our creative and technology agencies, CDMi Connect and Rehab Studio.  Together we built a home base where the Primary Immunodeficiency Community can connect with other patients, families, nurses, physicians, researchers and patient organizations, as well as find resources to spread public awareness, further physician education and maybe save some precious lives.

    http://downloads.info4pi.org/images/WMA-resize-175x144-55e9defde458c-original

  • A New Immune System Poster... for Adults!

    It looks like our Immune System Boy is all grown up!!!

    Education about Primary Immunodeficiency is one of the most important aspects of the JMF mission.  We have made it our duty to make sure that people all over the world are properly educated about PI and the Immune System.

    You may already be familiar with the JMF “Immune System Boy” Poster.  This is our educational illustration of how our Immune System works, and it is available in many different languages.

    As we age and grow up, so does our Immune System and it’s important to know what those changes are!

    Thanks to the amazing progress in PI research and treatment, patients with PI are living longer, fuller, and happier lives!  And now we have a brand new educational poster to join our library.. introducing the JMF “Immune System Man” Poster!

    http://downloads.info4pi.org/images/Immune-System---English-adult-resize-297x417-55e86269b97fc-original          http://downloads.info4pi.org/images/Immune-System---Dutch-adult-resize-271x411-55e8625e4ed89-original

    Currently, this poster is available in English and Dutch, but we plan on expanding on that as well!

  • September is Newborn Screening Awareness Month!

    Did you know September is Newborn Screening Awareness Month?

    Advocating for newborn screening for SCID is a huge part of our mission.  

    Early diagnosis saves lives, and we are dedicated to completing mandatory screening for Severe Combined Immune Deficiency (SCID) in all 50 states, and then around the world!

    Every day we take preventative measures to help ensure safety; Newborn Screening for SCID is exactly the same.  This September, for Newborn Screening Awareness Month we want to spread just how important a simple test can be – after all, it saves babies!

    • When it’s winter time... It’s important to wear a warm jacket
    • When you ride your bicycle... It’s important to wear a helmet
    • When you’re exercising... It’s important to stay hydrated
    • When you’re at the beach... It’s important to wear sunscreen
    • When there’s a test that can save your baby’s life... It’s important you have them tested. Newborn Screening for SCID... It’s important!

    Do you know if your state or country is currently screening newborns for SCID? Find out here: http://info4pi.org/town-hall/newborn-screening

  • New insight into how the immune system sounds the alarm

    T cells are the guardians of our bodies: they constantly search for harmful invaders and diseased cells, ready to swarm and kill off any threats. A better understanding of these watchful sentries could allow scientists to boost the immune response against evasive dangers (e.g., cancer or infections), or to silence it when it mistakenly attacks the body itself (e.g., autoimmune disorders or allergies).

    Now, scientists at the Salk Institute have discovered that T cell triggering relies on a dynamic protein network at the cell surface, as reported in August 3, 2015, in Nature Immunology.

    Read the full article here.

  • ‘Made a difference’: Stem cell donor meets her tiny recipient

    Pam Dicaire’s stem cells helped cure a stranger with severe immune disorder, baby Savanna Gomez!

    Under the rules of donation, their identities were kept mutually anonymous – until Saturday, when finally, they shared a hug at Seattle Children’s Hospital survivor reunion.

    Read the full heartwarming story here.

  • World Health Organization Hosts Geneva Meeting on Polio Eradication

    http://downloads.info4pi.org/images/WHO-resize-900x1200-55c521e01742b-originalJeffrey Modell Foundation  Co-Founders, Vicki and Fred Modell, along with JMF Scientific Director, Jessica Quinn, traveled to Geneva, Switzerland to attend World Health Organization Stakeholders’ Meeting on Poliovirus surveillance among children with Primary Immunodeficiency (iVDPVs)*.

    *iVDPVs stands for Immunodeficiency-associated Vaccinated Derived Poliovirus.

    The World Health Organization (WHO) conducted a two day meeting with partners all dedicated to global Polio eradication.  A report of the first 18 months of the study confirms that individuals with a diagnosis of Primary Immunodeficiency (PI), exposed to oral Polio vaccine (OPU) are at greater risk of shedding the virus into the community.

    In addition to JMF, the Bill and Melinda Gates Foundation, US Centers for Disease Control and Prevention (CDC), and the Task Force for Global Health, and expert immunologists were in attendance and reported on early results.

    Some of the possibilities developed at the meeting included;

    • Continuation of enrollment
    • Expansion of additional sites to include not only low and middle-income countries but high-income countries as well
    • Expansion of the patient criteria
    • Public awareness and community outreach programs to help address risk reduction
    • Public Health outreach to government health ministries to drive early diagnosis through the JMF 10 Warning Signs and other educational materials

    Vicki Modell, Co-Founder of the Jeffrey Modell Foundation stated, “We were very impressed with the hard work and serious purpose of all of our partners at this meeting.  We are thrilled with the progress of this program in such a short time and we are grateful to all of the participants.  We are now poised to move this study to public health implementation.  We are honored to be a part of this historic undertaking.”

    JMF’s Scientific Director, Jessica Quinn, MPH shared “Studying how PI patients react to the Polio vaccine is a key element in helping eradicate the virus worldwide.  We are honored that the Jeffrey Modell Centers Network is able to work alongside such wonderful organizations, and we hope that together, we can bring this eradication to reality.”

  • BBC’s “Fix My Genes”

    BBC’s “Fix My Genes” follows three children from Great Ormond Street Hospital in London, as they prepare for bone marrow transplants.

    The documentary follows 5 year old Herb, who has Nemo Syndrome, 9 year old Keano, who has Congenital Neutropenia, and 10 year old Teigan, who has SCID, along with their families and their doctors as they take this journey to obtain a better quality of life.  

    Watch the program here. Please note that some footage may be difficult to watch.

    FOLLOW UP!

    When the camera stopped rolling, 11 year old Teigan, received pioneering gene therapy that could save her life.

    Now, six months on, Teigan is out of hospital and enjoying life with her friends and family, who are keeping everything crossed that the therapy which will help her battle infections has been a success.

    Her mum Claire Reid, 35, said: “Teigan is doing really well at the minute. She’s at home and having great fun being outside with her friends. She’s a lot better than she has been in a long time. We won’t know until September whether the gene therapy has worked so, at the minute, we are playing the waiting game. At this stage, all I can say is that we’re hopeful it has been a success.”

    Read the follow up, here.

  • Baxalta Announces Expanded CMS Coverage for Medicare PI Patients to Receive At-Home Treatment with HYQVIA

    Baxalta Announces Expanded CMS Coverage for Medicare PI Patients to Receive At-Home Treatment with HYQVIA

    Read the full announcement here.

  • CDC CONTINUES GRANT AWARD TO THE JEFFREY MODELL FOUNDATION

    CDC CONTINUES GRANT AWARD TO THE JEFFREY MODELL FOUNDATION

    The Centers for Disease Control and Prevention (CDC) has again awarded funding to the Jeffrey Modell Foundation (JMF) to continue the Foundation’s precedent-setting Physician Education and Public Awareness Program for Primary Immunodeficiences (PI).

    The funding, which is in excess of $920,000, represents the fourth year of a five-year competitive grant award of $5,000,000 made by the CDC to the Foundation in  2012.  The  funding has been used to advance a number of public health purposes, including scientific symposia, publication of materials for physicians, patients and their families, and the production of television, radio and other public service announcements.

    The mission of the Office of Public Health Genomics, the organizational unit within CDC that oversees the grant, is to identify, inform about, and integrate genomic applications that can save lives. The JMF grant clearly supports that important mission. 

    “The Jeffrey Modell Foundation is delighted to continue working with CDC.  They have been a great partner in our efforts to stress the early and accurate diagnosis of PI and we look forward to continuing to partner with them into the foreseeable future,” said Vicki Modell, the Co-Founder of the Jeffrey Modell Foundation."

  • Pfizer’s Centers For Therapeutic Innovation And Jeffrey Modell Foundation Announce Collaboration to Help Advance Immunological Research

    JMF and Pfizer’s Centers for Therapeutic Innovation (CTI) will work together to conduct research in the field of immunological diseases.

    JMF Co-Founder Vicki Modell states “We are excited about the opportunity to collaborate with Pfizer as we broaden our commitment to make a world of difference in the lives of patients with immunological diseases.”

    Read the full press release here.

    Watch Vicki and Fred Modell discuss this research collaboration, here

  • The Jeffrey Modell Foundation Congratulates Baxalta On Their Official Launch

    Read the full Press Release, here.

  • International team discovers new genetic immunodeficiency – DOCK2

    An analysis of five families has revealed a previously unknown genetic immunodeficiency.

    The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system and leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.

    Research led by Kerry Dobbs and Luigi Notarangelo, M.D., of Boston Children's Division of Allergy and Immunology—reported that DOCK2 deficiency may be detectable bynewborn screeningand may be curable with a hematopoieticstem cell transplant(HSCT).

    Read the full story here!

  • Scientists film death of white blood cell for first time and discover alert system

    In a world first, scientists have captured on video each stage of death of a human white blood cell, a phenomenon never seen before and which reveals the cells apparently try to alert their immune system allies that they are dying.

    Dr. Ivan Poon, co-lead researcher and a biochemist at La Trobe University in Melbourne, Australia, said the discovery may help scientists better harness the body’s own defense and healing mechanisms, leading to improved treatment for diseases.

    Read the full article here.

  • JMF teams up with ADMA Biologics to Initiate Strategic Patient Advocacy Alliance

    The Jeffrey Modell Foundation and ADMA Biologics have joined together to create a new PI Patient Advocacy Alliance!

    Vicki Modell, Co-Founder of the Jeffrey Modell Foundation welcomes this new Alliance saying, "We are proud to work with ADMA Biologics. We believe in their mission, and in the potential for this work to change the lives of so many individuals. We are optimistic and hope to bring our energy and our commitment to this collaboration." 

    Read the full release here!

  • TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review

    The TRECs essay can successfully identify Severe Combined Immunodeficiency Disease (SCID) through a heel prick procedure done at birth. 

    A study recently performed in the Netherlands reconfirms this information as well as the diagnostic performance of established algorithms for TREC based NBS for SCID.

    Read the publishing in its entirety, here.

  • European Census Acknowledges Importance of IG Treatments

    The Council of Europe has officially and permanently listed immunoglobulin treatment on its “essential medicine” list.  This is the first ever pan-European strategy aimed at optimizing the treatment and care received by patients with immunodeficiencies and other disorders where IG is used as treatment.

    Read more about this exciting appointment, here

  • New treatment options for patients with Wiskott-Aldrich

    Children with Wiskott-Aldrich syndrome appear to have been cured, after receiving a new form of gene therapy, at Great Ormond Street Hospital in London, England.

    Doctors said the findings marked a turning point for gene therapy and could pave the way for similar techniques being used for more common conditions.

    Prof Adrian Thrasher, the Immunologist who led the work, said: “This is a very powerful example of how gene therapy can offer highly effective treatment for patients with complex and serious genetic disease. It also excitingly demonstrates the potential for treatment of a large number of other diseases for which existing therapies are either unsatisfactory or unavailable.”

    Read the full article, here.

  • New Disorder, COPA Syndrome, Identified by researchers in Texas.

    A genetic mutation that causes certain Primary Immunodeficiency disorders has been identified by researchers at Baylor College of Medicine and Texas Children's Hospital.

    The gene involved is called coatomer subunit alpha (COPA), and Dr. Jordan Orange, Chief of Immunology, Allergy and Rheumatology at Texas Children's Hospital calls this new disorder, COPA syndrome.

    COPA syndrome is a genetic condition that can vary in severity. If a person inherits the mutated gene, the disease will usually present itself in childhood and typically involves both lung disease and arthritis.

    Read the full article, here.

  • Global PI Village "Spotlight" Series: WPIW Edition ~ Dr. Jose R. Regueiro

    Name: Jose R. Regueiro

    Tell us about how you learned about JMF and World PI Week! I met Vicky and Fred many years ago in Geneva and have followed their incredible efforts to build what JMF now means worldwide, including the World PI Week.

    Profession and Location: I am a Professor of Immunology working in Madrid, Spain, at the Complutense University and the Hospital 12 de Octubre Research Institute. I happen to be the Head of the Department of Immunology there, and also the President of the Spanish Society for Immunology.

    +++

    What inspires you? The need to understand primary immunodeficiencies (PID) and how what we learn can in turn help patients and their families, and change our view of the immune system. Every new case is a professional challenge, but I never forget the human factor: I try to think on the patient first.

    What does World PI Week mean to you? It is a time to raise awareness for PID and to celebrate how far we have reached in our understanding of their causes and what that means to patients in terms of prompt diagnosis and treatment.

    What’s your favorite World PI Week memory? Last year we launched balloons with friends, students, colleagues, patients and their families. It was a magic moment, all of us looking upwards in hope of a better future, particularly for underdeveloped countries.

    Favorite Expression: Put an immunologist in your life.

    To Sum Up! My first contact with PID was a patient called Victor back in 1985, who presented with an extremely rare disorder which turned out to be the first T lymphocyte-specific PID to be molecularly characterized (CD3gamma deficiency). Meeting Victor changed my view of Immunology. Thirty years later, I still keep in contact with his family. Along the way I met several top-notch researchers from all over the world, such as Cox Terhorst, Balbino Alarcon, Fred Rosen, Max Cooper, Alain Fischer, Gigi Notarangelo, Chaim Roifman, Wolfgang Schamel and Jean-Laurent Casanova. I feel honoured to be a small part of the PID community, and to be helpful for patients and colleagues from all over the world.

  • Global PI Village "Spotlight" Series: WPIW Edition ~ Dr. Andrew Cant

    Name:  Professor Andrew J Cant, BSc, MD, FRCP, FRCPCH

    Tell us about how you learned about JMF and World PI Week!  The Royal Victoria Infirmary is one of 3 Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, here in the UK so our frequent contacts meant we were well aware of this important opportunity.

    Profession and Location: Consultant in Paediatric Immunology & Infectious Diseases  / Director of the Children's Bone Marrow Transplant Unit  / Professor of Paediatric Immunology - University of Newcastle / Clinical Senate Chair – NHS Northern England

    What inspires you?  Understanding the biology of PIDs is fascinating and working with children is very rewarding, but when you put these two aspects of medical care together I am completely captivated! It is simply such an amazing privilege to use our rapidly growing knowledge of these diseases to enable children to have normal exciting fulfilled and happy lives when previously they could only expect worsening debility, ill health and for many an early death.

    What does World PI Week mean to you?  Our daily work with PID patients, their families and our network of specialists, is rewarding but challenging.  WPIW encourages us to focus on the goals of our centre and there is a strength in sharing this week promoting PIDs with a global network, knowing collectively we are all championing the same cause.  Through WPIW activities we have been able to raise interest in PID across the north of Britain and Ireland amongst Paediatricians and Physicians.  We feel being part of this unique network ensures 30 million people have closer access to diagnosis and bespoke care for PID.

    What’s your favorite World PI Week memory?  Here in Newcastle we held a networking event as part of World PI Week in 2014. This event brought together doctors and nurses from 6 medical institutions across the north of the UK.  The new concept of bringing together our peers in this way was very exciting as we could discuss puzzling cases in depth and draw in cases and hospitals who had not been involved before. This has enhanced our network of outreach PIC clinics in Scotland, Ireland, Manchester, Leeds and Sheffield so that have a much more mature and robust way to disseminate knowledge and expertise.

    Favorite Quote:  “Together we can do the impossible!”

    To Sum Up!  I have been a doctor for over 35 years and after working in the field of internal medicine and infectious diseases, I “crossed the floor” to paediatrics and immunology some 30 years ago. It has been wonderful to work with a group of patients where you can make such a difference, helping on the “upward slope” to healthy well being. I have always wanted to know the answer to “why”, “what if”, “what would happen if” and “why couldn’t we try this” so I love the mix of looking after patients and trying to find out more about the conditions they suffer from, and better ways of curing them. This is such an exciting time with so many new research findings that make a real difference to patients, so I remain the excited curious little boy at heart!  I live in the far north of England amidst beautiful countryside and close to some spectacular coastline, so it isn’t surprising that I love the outdoors, hiking, walking biking and running. I also greatly enjoy music and history, and am very fond of Scotland where most of my family live.

  • Gene Therapy Options for SCID Babies

    The Journal of the American Society of Hematology (ASH), Blood, has reported that children with SCID who undergo gene therapy have fewer infections and hospitalizations than those receiving stem cells from a partially matched donor.

    The research is the first to compare outcomes among children receiving the two therapeutic approaches and provides additional options for patients without a fully matched stem cell donor.

    Read the full article here.

  • Global PI Village "Spotlight" Series: WPIW Edition ~ Dr. Maria Kanariou

    Name:  MARIA KANARIOU

    Tell us about how you learned about JMF and World PI Week!

    • “Member” of WHO and IUIS meetings for Primary Immunodeficiency Diseases in the past.
    • “Contact Person” of JMF in Greece
    • IPOPI meetings
    • Medical Director of “ARMONIA” -  Patient Organization of Friends Patients with Primary Immonodeficiencies - Paediatric Immunologogy
    • Friendship with Vicki and Fred Modell !

    Profession and Location: Head Director, Department of Immunology and Histocompatibility, Specialised & Referral Center for Primary Immunodeficiencies - Paediatric Immunology, “Aghia Sophia” Children’s Hospital, Thivon & Papadiamantopoulou Str, 115 27 Athens, Greece (Phones:  +306944675007, +302132013766)

    What inspires you?

    • To understand the function of Immune System order to treat patients with Primary Immonodeficiency aetiologically.
    • The improvement of quality of life of patients’ with Primary Immunodeficiency and their families

    What does World PI Week mean to you?

    • The increase of awareness for early diagnosis of Primary Immunodeficiencies
    • The improvement of quality of life of patients’ with Primary Immunodeficiency and their families.

    What’s your favorite World PI Week memory? I can speak only for events in Greece and my favorite one was a concert with Symphony Orchestra of Athens in 2011.

    Favorite Expression: Awareness!  Test. Diagnose. Treat.

    To Sum Up!  I admire Vicki and Fred. As they say: ”their son,  Jeffrey, changed their lives forever, along with the lives of thousands of people he would never meet”.    I feel member of JMF community and I have memories of many of JMF important scientific symposia.   The celebration of 25th anniversary was the most significant one!

  • Global PI Village "Spotlight" Series: WPIW Edition ~ Dr. Liliana Bezrodnik

    Name: Liliana Bezrodnik

    Tell us about how you learned about JMF and World PI Week! When I began to work with the LAGID members I received the information about the excellent job of Vicky and Fred and their help to diffusion of PID and the work about PID and research of immunologist physician.

    An active member of LASID I learned of World PI Week and My team and I work together in my country to do the diffusion about it. 

    Profession and Location: Doctor and Head of Immunology Unit at Ricardo Gutiérrez Children’s Hospital Buenos Aires, Argentina

    What inspires you?  I want to help my patients and their family and to do the diffusion of PID in Argentina because I know exist more PID in my country without diagnosis and their need to do it.

    What does World PI Week mean to you? The opportunity to teach and to do the diffusion of PID.  To also accompany our patients and family so they do not feel alone.

    What’s your favorite World PI Week memory?  The last year was the favorite for me

    Favorite Quote: The PID are important diseases that compromise the health but with the early diagnosis and the treatment they can live in health

    To Sum Up! My team and I work hard to help our patients for their diagnosis and treatment and to do the diffusion of PID in Argentina.  We do the different activity to teach about PID in the medical community and to help the patients and their family to understand about their diseases and the important their receive the treatment.

    You can see our activity in the facebook page and the testimony of the patients: Inmunodeficiencias Primarias en la Argentina. Dra. Bezrodnik y equipo

    In yoube to you can see: "el maravilloso mundo del señor SI". I wrote the story "El señor SI" (señor sistema Inmune)

  • Global PI Village wins “Outstanding Website” Award in the Internet Advertising Competition run by the Web Marketing Association!

    The Jeffrey Modell Foundation is elated to announce that the Global PI Village® has won “Outstanding Website” in the Internet Advertising Competition (IAC) run by the Web Marketing Association!

    The IAC Awards provides an opportunity to highlight the best online advertising in 96 industries and 9 online formats including, online ad, video, mobile, newsletter, email and social media.

    Along with the extraordinary talent of our creative and technology agencies, CDMi Connect and Rehab Studio, we have been able to create a virtual home; an inviting place where we are able to help the Primary Immunodeficiency community connect with other patients, families , nurses, physicians, researchers and  patient organizations, and provide resources to spread public awareness and further physician education.

    Receiving this honor only further motivates us to continue our mission of earliest possible diagnosis!

    We are so proud to be recognized as the number one resource for Primary Immunodeficiency information.  This Award is dedicated to you, the PI Community as you continue to inspire us each and every day!  

    http://downloads.info4pi.org/images/IAC-logo-resize-240x120-5524150015b55-original

  • Global PI Village "Spotlight" Series: WPIW Edition ~ Ruth Herrera

    Name: Ruth Herrerahttp://downloads.info4pi.org/images/JMF-Balloons-resize-228x250-533edcec9943c-original

    Tell us about how you learned about JMF and World PI Week!  Ten years ago I started working for Dr. William T. Shearer as his administrative support.  While working in his office on the avalanche of e-mails, I received an e-mail from his very dedicated Allergy and Immunology Clinic team, they were putting together a “JMF Kids Day” and needed volunteers.  Being new and wanting to get involved in “office” activities, I signed up to volunteer.  I didn’t know what this day was about, where it originated or who it was for.  I knew this day was for our patients and help was being requested, which was all I needed to know.  Once I was onboard, I started asking question and was very touched by the answers I was given.  What a beautiful act of kindness and generosity did Fred and Vicki Modell provide for children and families they don't know. I was given the opportunity to participate in a day when a child and parent are worry free for a day, I saw how excited the patients were to attend the outing with their loved ones (and loved health care providers) and they shared their special day with other children that know what each other is going through; what an eye opener!

    Three years ago, the Allergy and Immunology Service was very fortunate to have Dr. Jordan S. Orange join the Texas Children’s Hospital family as the new Service Chief.  He didn’t bring any cold weather with him, instead he brought a Texas size vision on what we can do to improve our patient care in all aspects- clinical, administrative, research and outreach; not only for the Texas Children’s Hospital patients, but to the entire southeast region of Texas and beyond. 

    The Immunology, Allergy and Rheumatology Service celebrated our first World PI Week April 2013. We had a great turn out, Dr. Orange gave some brief remarks, and we released our balloons, a delightful event.  However, the following year, we had bubbles and balloons and cake! All of this brought out the kid in us, we had an even bigger turn out, an ex-patient and current patients! Keep sending the bubbles!

    On Friday, August 23, 2013, we had the honor of being named a Jeffrey Modell Diagnostic and Research Center, where I met Mr. and Mrs. Modell. Unfortunately, I was too caught up in the whirlwind of event details (typical administrative coordinator disease) to stop and tell them how admirable I think their work is.  Thank you Mr. and Mrs. Modell.

    Profession and Location: Senior Administrative Coordinator, Texas Children’s Hospital, Houston, Texas.

    What inspires you? On a professional level, the entire Immunology, Allergy and Rheumatology Service.  On a personal level, my family and faith.

    What does World PI Week mean to you? The opportunity to reach out and educate at least one person on the importance of this mission.

    What’s your favorite World PI Week memory? On a beautiful day in April 2014 the Immunology, Allergy and Rheumatology Service gathered to kick-off, World PI Week. Joining us was a former immunodeficiency patient, now a doctor at Texas Children’s Hospital and a current young patient. What better proof did we have in front of us to see how far we have gotten and what more we can offer our new patients.  Together we all stood, blowing bubbles with smiles on our faces and releasing hope and awareness to the world. 

    Favorite Quote: “Where there is a will, there is a way.”  While this may not be the most inspiring quote, I apply it to my everyday life.  It helps me look past obstacles and focus on solutions.

    To Sum Up! My name is Ruth Herrera, I was born and raised in Omaha, Nebraska.  I moved to Houston 11 years ago and had the good fortunate to work for Dr. Celine Hanson at the Texas Department of Health. One thing led to another and I found myself working at Texas Children’s Hospital for amazing people.

    True to my culture, I’m always surrounded with family.  We travel, shop, and gather frequently.  On my down time, I enjoy reading.

    I wake up every morning thankful for all of my blessings.

  • A CRISPR Solution to ‘Bubble Boy’ Disease?

    Kentucky, with an annual birth rate of 55,000+ is one of the few states where infants are not routinely screened for the disease, and have no plans for implementation!

    Phoenix, a Kentucky-born baby with SCID, was fortunate enough to be diagnosed and treated by the doctors at UCSF, and is nowback at home and doing great.  KQED covers how important Newborn Screening for SCID is, in order to obtain earliest possible diagnosis and available treatment options.

    Read more about Phoenix’s story here

  • Norway Becomes the First Country in Europe to Implement Newborn Screening for Severe Combined Immune Deficiency (SCID)!

    Norway recently announced that it will be mandating nationwide newborn screening for Severe Combined Immune Deficiency (SCID), becoming the first European country to commit to implementation!  Initially this will be a pilot program, prior to universal screening.

    SCID is a group of disorders characterized by little or no immune response. Also known as the “bubble boy” disease, infants with SCID are highly susceptible to severe bacterial, viral, and fungal infections.

    SCID is fatal in the first 2 years of life if not treated with hematopoietic stem cell transplantation or gene therapy. However, there is a 95-100% success rate of survival for affected babies transplanted in the first three months of life.

    With an annual birthrate of ~58,000, Norway’s decision provides protection for the world’s most precious resources – babies.

    In June of 2014, The Jeffrey Modell Foundation dedicated a Jeffrey Modell Diagnostic and Research Center in Oslo.  In attendance at the commencement ceremony, were Immunologists and government officials who gathered to support the importance of physician education, awareness of PI and Newborn Screening for SCID.

    Dr. Tore Abrahamsen from Oslo Children’s Hospital, together with Sveinung Stensland representing Norway’s Health Ministry and several passionate patient families were instrumental in this historic initiative becoming a reality!

    In the wake of this exciting new development, Dr. Jennifer Puck, UCSF Jeffrey Modell Center Director and newborn screening expert said “Now with the leadership of Norway, other countries in Europe must recognize that this lifesaving SCID newborn screening is "ready for prime time" and must be implemented in all other countries.”

    To read more about this amazing achievement, click here!

  • Doctors Pioneer Procedure That Gives Baby Boy New Immune System

    Kini Tawalo was born with Severe Combined Immune Deficiency (SCID).

    The typical therapy for this inherited disorder – a bone marrow transplant to rebuild his immune system – presented a major hurdle.

    "There are 25 million people registered in the world to be bone marrow donors and unfortunately none were a suitable match to Kini," said one of his doctors, Tracey O'Brien, the Head of Bone Marrow Transplant at the Sydney Children's Hospital in Randwick.

    To save the little boy, his doctors decided to try a complicated procedure that had never been attempted for this condition in Australia. Using his mother's bone marrow as a base, the team fashioned Kini a new immune system.

    Read more about Kini’s story, here.

  • Newly-Found T-Memory Stem Cells May Be Key to Gene Therapy

    A recent study, revealed that genetically engineered T-memory stem cells (TSCM) can last more than 12 years in patients’ bodies, and can continually generate appropriate T-cell armies for them, says an innovative study looking at two historic clinical trials.

    It was known that mature human memory T-cells could persist—if no one knew for how long. And it was theorized thatrecently discovered human TSCM cells could persist—if again, no one knew for how long.

    To learn more, you can read the full article here.

  • Harvard Medical: “How to Boost Your Immune System”

    Harvard Medical has summarized some of the most active areas of Immune System research.

    The idea of boosting your immunity is enticing, but the ability to do so has proved elusive for several reasons. The immune system is precisely that — a system, not a single entity.

    To function well, it requires balance and harmony.

    Read more about “How to Boost Your Immune System”, here.

  • Global PI Village "Spotlight" Series: Grant Ginsberg

    Name: Grant Roberts Ginsberg

    When did you join JMF? I joined JMF in July of 2014.http://downloads.info4pi.org/images/Boy-Reaching-for-the-Star-resize-120x174-533edc58223bd-original

    Role: Senior Program Director. My role includes marketing our SPIRIT 2.0 Analyzer, Pharmaceutical outreach, and helping coordinate the Jeffrey Modell Infusion Center project.  

    What inspires you: I had the pleasure of unexpectedly meeting Vicki and Fred Modell this past summer. I was introduced to the Modell’s through a mutual friend, while we were eating out at an Italian restaurant in New York. I immediately connected with Vicki and Fred on both personal and professional levels. Their lifelong journey and story truly resonated with me. I believe that their son Jeffrey chose me to meet Vicki and Fred on that particular night. I keep a picture of Jeffrey at my desk which is a continuous reminder to work as hard as I can, on his behalf. Vicki and Fred have truly inspired me to live for something greater than myself.

    What aspect of JMF do you find most special? The work I do at JMF gives me the most fulfilling feeling at the end of the day. Knowing that I am helping save children’s lives is the most gratifying feeling. The global presence of JMF is truly unbelievable and being relatively new to JMF, I have the utmost respect for Vicki, Fred, and the rest of the JMF family.

    What’s your favorite JMF memory? I love hearing about the stories of children’s lives that have been saved through JMF’s efforts, particularly through Newborn Screening.

    Favorite Quote: “You only live once, but if you do it right, once is enough.“ -Mae West

    To Sum Up! I grew up in Rabat, Morocco and went to college at Indiana University. I love to travel, workout, read, and discuss politics/current events. I am a very easygoing guy.

  • JMF Co-Founders, Fred and Vicki Modell receive AAAAi Distinguished Laypersons Award

    The American Academy of Allergy, Asthma & Immunology (AAAAI) recently announced that Fred and Vicki Modell are this year’s Distinguished Laypersons Award recipients. AAAAI is a professional organization with more than 6,800 members in the United States, Canada and 72 other countries. The organization is dedicated to the advancement of the knowledge and practice of allergy, asthma and immunology for optimal patient care.

    This Award is granted to non-medical people known to have made substantial contributions to the fields of Allergy, Asthma and Immunology.

    Fred and Vicki Modell began advocating for Primary Immunodeficiency in 1987. Since then, they have made tremendous strides within the Primary Immunodeficiency community, further enhancing research, awareness, and education for physicians, patients and the public.

    One of their many significant accomplishments includes advocacy for the importance of Newborn Screening of Severe Combined Immune Deficiency (SCID), resulting in the implementation of mandatory screening in 27 states across the country.

    Upon receiving this honor, Vicki Modell commented, “Jeffrey never knew how he would change our lives forever and the lives of so many thousands of children he would never meet. For all of those children… for all of those children yet to be born… and on behalf of Jeffrey… we accept this prestigious award with profound appreciation and deep humility.”

    http://downloads.info4pi.org/images/AAAAI-award--resize-393x488-54eb473aa7e9e-original

  • The Additional Importance of T-Cell Receptor Excision Circles (TRECs)!

    Study results further solidify the life-changing importance that mandated TRECs screening brings to the world!

    Read the published manuscript in its entirety here.

  • FDA Approves New Dosing Option for CSL Behring's Hizentra®

    New Label Supports Individualized Therapy Through Greater Dosing Flexibility From Daily to Once Every Two Weeks (Biweekly); Underscores CSL Behring's Commitment to Improving Patients' Lives

    "CSL Behring understands that managing a life-long disorder can be challenging as patients' lifestyles and treatment requirements may change over time," saidBill Campbell, Senior Vice President, North America Commercial Operations, CSL Behring. "Offering PI patients the option of dosingHizentraat regular intervals from daily to once every two weeks further underscores our commitment to providing treatment options that improve patients' lives."

    Read the full story here.

  • President Obama’s New “Precision Medicine Initiative”

    President Obama announced a major biomedical research initiative, including plans to collect genetic data on one million Americans so scientists could develop drugs and treatments tailored to the characteristics of individual patients.

    White House officials said the “Precision Medicine Initiative” would begin with a down payment of $215 million in the President’s budget request for the fiscal year, starting October 1.

    The new initiative included in his budget would fund research into precision medicine, often referred to as personalized medicine, which tailors treatment to genetic and other factors of individual patients. The President stated “it gives us one of the greatest opportunities for new medical breakthroughs that we have ever seen.”

    Read the full article here.

  • Immunoglobulin Therapy: One Size Doesn’t Fit All

    The International Nursing Group for Immunodeficiencies (INGID) announced today the launch of a new e-learning course titled ‘Immunoglobulin Therapy: One Size Doesn’t Fit All’. The e-learning course is aimed at nurses and other medical professionals who have patients needing immunoglobulin therapy.

    The e-learning course has been developed by an international panel of experts in the field of immunoglobulin therapy in cooperation with the CME provider Medicalwriters.com and made available on ingid.medicaleducation.md.

    The International Council of Nurses (ICN) has accredited the course and those who successfully complete the course and pass the online exam will receive one International Nursing Education Credit (ICNEC), which is equivalent to 60 minutes of accredited continuous learning.

    'We’re excited to provide this new online course. Immunoglobulin therapy has been in use for more than 60 years and provides the patient with a variety of antibodies that have been proven to be beneficial in many people who require them, and in some conditions they are life-saving.

    Although Immunoglobulin has an excellent safety record, it is important to understand the circumstances that could potentially give adverse reactions, the brands of Immunoglobulin and the route they can be administered by and how. It is only recently that we have come to realize that not all patients have the same preferences when it comes to their treatment options., says Amena Warner, newly elected INGID President.

    Amena also stated that ‘It is important for all of us in the healthcare profession to have a current knowledge of the developments in the field. The continued development through the ingid.medicaleducation.md platform is vital to improving standards of care. We're looking forward to providing more courses in the future.’

    About Immunoglobulin Therapy

    The fraction of blood plasma that contains immunoglobulins (Ig), or antibodies is known as “immunoglobulin”. Individuals who are not able to produce sufficient amounts of Ig or antibodies, such as patients with XLA, CVID, Hyper-IgM Syndromes, Wiskott Aldrich Syndrome or other forms of hypogammaglobulinemia, may benefit from replacement therapy with Ig.

    About INGID

    The International Nursing Group for Immunodeficiencies (INGID) was formed in 1994 by nurses who were working with children and adults diagnosed with primary immunodeficiency disorders.

    About Medicaleducation.com and Medicaleducation.md

    Medicaleducation.md is a new medical e-learning platform provided by MedicalWriters.com. Medicalwriters.com is a medical marketing and communications agency that helps healthcare businesses, providers and associations capture, create and communicate medical information. 

  • Dr. Alain Fischer is a Recipient of the 2015 Japan Prize

    The Jeffrey Modell Foundation is proud to announce that our very dear friend, Alain Fischer, MD, PhD, from Hôpital Necker-Enfants Malades and the Imagine Institute in Paris, France is a recipient of the prestigious 2015 Japan Prize.

    The award recognizes Dr. Alain Fischer’s ground-breaking, life-saving research and clinical application of  gene therapy, and how it has and will continue, to change the world for this generation and those yet to be born. We are so proud to have been a part of his gene therapy journey, since 2000, and so grateful that he is a part of our Primary Immunodeficiency world!

    Our heartfelt congratulations!

    To learn more read the articles below!

  • Gene Therapy for SCID

    SCID has been identified as the ideal candidate for gene therapy treatment and has led the development of gene therapy for other bone marrow disorders.

    Looking to the future, gene editing strategies hold enormous promise, and SCID will continue to be the paradigm condition for the development of these applications.

    Read the full article here.

  • Preparing Your Child for Visits to the Doctor

    Living with PI sometimes means having to visit the doctor more frequently than others.

    Our friends at Children’s of Alabama and Kids Health have provided tips to help parents prepare their child for a doctor’s visit, how to address common fears and concerns, and how to help children express these fears and overcome them.

    Read the full text here.

  • “Immunology: Fifty years of B lymphocytes”

    Fifty years ago this week, a journal article revealed that there are two types of lymphocytes. This insight shaped the course of modern Immunology and influenced the study and care of Immunodeficiency conditions, Cancers of the immune system and the development of monoclonal antibodies — powerful research tools and therapeutics.

    Reflect on the discovery of these two lineages of adaptive immune cells, and how they influenced vaccinations, cancer therapies and the development of a class of antibody-based drugs. “Immunology: Fifty years of B lymphocytes”

  • JMF “Bursts the Bubble” about PI!

    At the Jeffrey Modell Foundation, we strive to do good every day and we are excited to further spread our mission about the importance of education and awareness about Primary Immunodeficiency!

    Join JMF by posting a picture of yourself creating bubbles on Facebook!  Add the caption “I’m joining the Jeffrey Modell Foundation to help “Burst the Bubble” about PI! Learn the 10 Warning Signs of Primary Immunodeficiency and much more by visiting www.info4pi.org! #JMF #info4pi”

    You can use soap bubbles, make a bubble from your chewing gum, or even blow them in your chocolate milk – the options are endless and we are excited to see the creative and unique ways our community will participate.

    Be Clever!  Be Cheerful!  Be Creative!

    The best part is that you can "Burst the Bubble" anywhere and with anyone!

    How will you help “Burst the Bubble” about Primary Immunodeficiency?  We look forward to seeing what you create and share with the JMF family. Don’t forget to post your pictures to our Facebook page, tag us, and include the #JMF & #info4pi hashtags!

    http://downloads.info4pi.org/images/JQ_GG-RB-resize-875x585-5501fadba7d9d-original

  • Gene Therapy and Severe Combined Immunodeficiency (SCID)

    New treatment will help inherited immune system disorder, Severe Combined Immunodeficiency (SCID), and researcher’s report 14 of 16 children are doing well.

    Click here to read more about this story, and view educational diagrams.

     

  • A Sequencing Capture Approach to the Diagnosis of Primary Immunodeficiency

    Targeted sequencing is a preferred initial choice for PID diagnostics and has great potential as a first-line genetic test.

    Whole genome sequencing is currently approaching the $1,000 milestone.  Yet, the cost of a gene targeted library preparation kit is still much lower (~$100 per sample, and a sequencing cost in the same range).

    Read the full article here.

  • Be the 1st to Know: Patient Notification System!

    The Patient Notification System (PNS) is the first of its kind, a system designed to inform and empower patients with important information on all brands of immune globulins, blood clotting factors, alpha-1 proteinase inhibitors and other lifesaving plasma protein therapies; and it’s all done confidentially!

    To learn more about this system and how to register, visit the websites below!

    • Plasma Protein Therapeutics Association (PPTA)
    • Patient Notification System (PNS)

     

    These important and informative websites can also be found in the Global PI Village’s “Resources” section here.

  • Global PI Village "Spotlight" Series: Dr. Ridha Barbouche

    Name:  Ridha Barbouchehttp://downloads.info4pi.org/images/Doctor-resize-92x250-533edc767dffe-original

    When did you start working with the JMF?  Since 2008 at a symposium entitled ‘’PIDs beyond Europe’’ during the ESID meeting which took place in The Netherlands.

    Profession and Location:  M.D., Ph.D. Professor of Medicine at the Medical School, University of Tunis El Manar, Head of Department and Director of Research Laboratory at the Institut Pasteur de Tunis, Tunis, Tunisia

    What inspires you?  To progress in anything I do, including helping provide a better life for patients and their families.

    What aspect of JMF do you find most special?  The opportunity to share experiences and knowledge with a fantastic community of colleagues, facilitated by brilliant hosts and friends of everyone.

    What’s your favorite JMF memory?  The contribution of Vicki and Fred to the second ASID meeting in Hammamet, Tunisia which translated their permanent commitment to advance PIDs cause everywhere.

    Favorite Quote:  "There is hope…always!"

    To Sum Up!  I grew up in the small island of Jerba in Southern Tunisia, I think that the marvelous Mediterranean sea around me –beautiful and mysterious- had a major impact since then on my permanent quest to better discover, understand and appreciate people and things around me and beyond.

  • Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

    Two different genetic analysis techniques were applied in these patients including whole exome sequencing in one patient and the use of a gene panel designed to target genes known to cause Primary Immunodeficiency disorders in a second patient. Sanger dideoxy sequencing was used to confirm RAG1 mutations in both patients.

    More on this article here.

  • Global PI Village "Spotlight" Series: Dr. Chaim Roifman

    Name:  Chaim M Roifmanhttp://downloads.info4pi.org/images/Doctor-resize-92x250-533edc767dffe-original

    When did you start working with the JMF? 1996

    Profession and Location: Director, Canadian Center for Primary Immunodeficiency | Director, Immunology Specialty Lab | Director, Fellowship Training Program in Immunology/Allergy | Senior Scientist, Research Institute | Professor of Paediatrics and Immunology, University of Toronto | The Hospital for Sick Children, 555 University Ave.  Rm7277Elm, Toronto, ON. M5G1X8

    What inspires you? Finding cures for PID (complexity of human body).

    What aspect of JMF do you find most special? A charity that single handedly transformed the field of Primary Immunodeficiency into a scientific and educational powerhouse for the benefit of individuals afflicted with immunodeficiency.

    What’s your favorite JMF memory? The inception of the JMF Network

    Favorite Expression: How can I help you?

    To Sum Up! First and foremost, I am a loving and devoted partner to my wife Perach; proud father to Idan, Rona and Maian; and a complete voluntary prisoner to my gorgeous grandchildren. I am a clinician-scientist-educator and advocate for PID. I created, or helped create 7 (inter)national organizations promoting PID research and awareness. I conduct research into the molecular basis of PID, and signal transduction in lymphocytes. I have improved outcome of bone marrow transplantation in severe combined immunodeficiency, defined dosing and new indications for IVIG, and developed novel anti-cancer agents. I am a recipient of numerous awards including the E Mead Johnson award, the Henry Friesen Award, and the Donald and Audrey Campbell Chair. I hold 142 patents, have authored over 300 peer-reviewed articles in high impact journals like Cell, Nature, New England Journal of Medicine and JAMA, and attained multiple grants from agencies such as NCI, CIHR, OCRN, NIH, and others. I am fortunate to be supported by scientists in my laboratory, close colleagues and friends, and very proud of the achievements of my students. I am also lucky to be presented with the rare opportunity of disseminating scientific information related to PID as editor in Chief of LymphoSign Journal.

  • Global PI Village "Spotlight" Series: PJ Maglione, MD, PhD

    Name: PJ Maglione, MD, PhDhttp://downloads.info4pi.org/images/Doctor-resize-92x250-533edc767dffe-original

    When did you start working with the JMF? I began working with the JMF at the start of Allergy/Immunology Fellowship at Mount Sinai in July 2011. The JMF has generously supported fellows-in-training at Mount Sinai for many years so that they receive top-notch training in clinical care and research in the field of primary immunodeficiencies. Now that I am at my early stages as an academic faculty member, the JMF has been absolutely pivotal in allowing me to have protected time to continue my research endeavors and apply for grants as an early career investigator.

    Profession and Location: Instructor, Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY

    What inspires you? People who are passionate about what they do, in work and play. It is so easy to get into a routine, get by with the minimum, and let life and opportunities pass you by. When I see those who are really trying to be the best at what do professionally, whatever it may be, and try to get the most out of life every day, it wakes me up out of that easy routine and reminds me to try to be one of those people myself.

    What aspect of JMF do you find most special? Speaking from experience, I can say that I think the JMF’s commitment to fellows-in-training is quite special. Not only has the JMF supported our fellowship training program at Mount Sinai for many years, but it has also made available research and travel grants to those who really need it. These grants are absolutely vital for fellows-in-training and early career faculty who have limited financial support to conduct research or attend conferences.

    What’s your favorite JMF memory? I actually had the opportunity to sit next to Rochelle Hirschhorn at dinner at a JMF event this past year. Not only did she discover ADA deficiency, a type of severe combined immunodeficiency, but she also predicted that it could be treated with gene therapy, which we now have increasing optimism may become a reality for many children with this form of primary immunodeficiency. She is a real giant in the field of immunology and truly an inspiration when you consider that this work was done during a time when women physician-scientists were not common or eagerly accepted. I cherish the conversation I had with that night Dr. Hisrchhorn very much.

    Favorite Quote: This might be silly because it is a quote from television, but one quote by Jean-Luc Picard (Captain of the Enterprise from Star Trek the Next Generation!), “Things are only impossible until they are not,” has always stuck with me. These words come into my head often when faced with difficult clinical or research scenarios that seem hopeless. We should believe that we will make new therapies and treatments for diseases that seem impossible to treat, because that’s all we have ever done. Similarly, when we think about research we have to remember to not be afraid to challenge scientific dogmas, because that is the only way we’ve ever moved forward. Jean Luc-Picard was an inspiring guy!

    To Sum Up! I’ve had a longstanding interest in immunology, ever since I was introduced to it in high school biology class. I was so enamored with the topic that I picked a college because it had an undergraduate immunology major and wrote a research paper on B cells in the first semester of my freshman year. I pursued an MD/PhD because I thought it would give me the best chance to learn all aspects of immunology, both basic science and clinical medicine, and met with my current clinical and research mentor, Charlotte Cunningham-Rundles, years before I started fellowship in clinical immunology. I have been pursuing a career in immunology for quite a long time. It is so exciting to have finally gotten this far.

  • Israel is the First Nation to Implement Newborn Screening for Severe Combined Immune Deficiency (SCID)

    On December 30, 2014, after years of committed advocacy and “cutting edge” research, the State of Israel passed a resolution to screen every newborn in the country for SCID. This was a collaboration that started with the Jeffrey Modell Centers Network in Israel and the many talented, passionate, and brilliant physicians, including Dr. Raz Somech and Dr. Amos Etzioni, who made the dream a reality.

    Dr. Raz Somech, Sheba Medical Center, Tel Aviv said that he is so “proud, excited and thrilled” and that he thinks this is the greatest achievement of his career. Dr. Amos Etzioni, Meyer Children’s Hospital, Haifa expressed that this will change the course of Primary Immunodeficiency in Israel and have a profound impact upon so many young lives. Vicki Modell, Co-Founder of the Jeffrey Modell Foundation said, “together with these talented physicians in our Network, the Jeffrey Modell Foundation continues to advocate for newborn screening for SCID worldwide and to improve the quality of life of those affected with Primary Immunodeficiency. We are now one step closer to curing PI worldwide… changing the world one baby at a time.”

  • How SCID Became Part of California’s Newborn Screening Program

    In 2010, California launched a pilot program for Newborn Screening for Severe Combined Immunodeficiency (SCID), of which the Jeffrey Modell Foundation played a huge role.

    Along with Dr. Jennifer Puck, Professor of Immunology and Medical Director of the Pediatric Clinical Research Center at UCSF, they were able to connect with the California government officials to prioritize this test.

    Finally in 2011, California became the third state to implement mandatory screening for SCID.

    Read more about this story here.

  • FDA approves marketing of the first newborn screening test to help detect Severe Combined Immune Deficiency

    A huge step for Newborn Screening for SCID!

    For the first time, the FDA is allowing the marketing of a newborn screening test that will enable states to incorporate an FDA approved SCID test into their standard newborn screening panels and to obtain earlier identification for affected individuals.

    Read the full press release here!

  • Congress passes H.R.1281, the Newborn Screening Saves Lives Reauthorization Act of 2014!

    Congress recently passed a new bill that amends the Public Health Service Act.  This update will allow for additional grant programs and funding to promote and encourage screening of newborns and children for inherited disorders.   This will provide increased funding and recognition for the diagnosis for Severe Combined Immunodeficiency (SCID).

    This bill is currently on route to the White House where it will go to President Obama for his signature, securing its place in US law.

    Read the full press release here.

  • Global PI Village "Spotlight" Series: Dr. Juan Aldave

    Name: Juan Carlos Aldavehttp://downloads.info4pi.org/images/Doctor-resize-92x250-533edc767dffe-original

    When did you start working with the JMF?  On December 2011 I evaluated a 2-month-old girl with severe mucocutaneous candidiasis. Her name was Sami Toro. At that time my career in PID was not yet initiated, so I did not know how to help the baby. Then, I contacted Vicki Modell by email. She suggested me to contact Dr. Antonio Condino, who referred me to Dr. Jacinta Bustamante, Dr. Anne Puel and Dr. Jean-Laurent Casanova (Paris, France). Some months later, they found a gain-of-funcion STAT1 mutation. This patient settled the initiation of our PID work and my PID career. JMF had an essential participation in this wonderful story.

    Profession and Location: Medical Doctor, Allergist and Clinical Immunologist, Hospital Nacional Edgardo Rebagiati Martins, Lima, Peru

    What inspires you?  The smile of our little patients.  The trust and hope of their parents.

    The support of JMF and every professor that has helped us for genetic and molecular studies (Dr. Luigi Notarangelo, Dr. Steven Holland, Dr. Troy Torgerson, Dr. Hans Ochs, Dr. Talal Chatila, Dr. Jordan Orange, Dr. Lisa Forbes, Dr. James Lupski, Dr. Anne Durandy, Dr. Jean-Laurent Casanova, Dr. Jacinta Bustamante, Dr.  Anne Puel, Dr. Bodo Grimbacher, Dr. Antonio Condino, Dr. Shigeaki Nonoyama, Dr. Bobby Gaspar, Dr. Amos Etzioni, Dr. Jean Donadieu, Dr. Fabian Hauck, Dr. Klaus Warnatz, Dr. Millo Seppanen, Dr. Kate Sullivan, Dr. Francisco Bonilla, Dr. James Verbski, and their wonderful teams).

    What aspect of JMF do you find most special?  Their love to PID patients.  Their wonderful organization.

    What’s your favorite JMF memory?  The first e-mail that Vicki sent me, with the precise counsel for us to help Sami Toro. This baby started my PID career.

    Favorite Expression:  Every day is a new journey to improve PID work in Peru.

    To Sum Up!  I am honored to be part of the JMF team. It is a privilege to receive such support. The improvement of PID children makes me feel happy and useful. I love teaching about Immunology in a simple and funny way. I love playing soccer. My family (parents, brother and sister) gives me a lot of support. I strongly believe in God’s love and power.

  • Medikidz Explain Primary Immunodeficiency

    At JMF, we’re always looking to find new and creative ways to help educate about Primary Immunodeficiency.  Medikidz is a comic book company dedicated to helping explain medical conditions to children through fun stories, and have created a story around PI.

    Click here to find "Medikidz Explain Primary Immunodeficiency" !

  • Global PI Village "Spotlight" Series: Jo Ann Fortunato

    Name: Jo Ann Fortunato

    When did you join JMF? June 15, 2002

    Role: Chief Financial Officer. I am responsible for the day to day financial coordination and reporting on the financial activities of the Foundation.

    http://downloads.info4pi.org/images/Piggy-Bank-resize-248x152-533edd39db5b6-original

    What inspires you? Passion, compassion and acts of kindness.  Our Roots and Wings Program brings all of that together. What can be more inspiring than helping to save the life of a child?

    What aspect of JMF do you find most special? The ability to see the realization of Fred and Vicki’s visions and dreams. As an example, when I first interviewed at JMF 13 years ago, I asked “what does the Foundation hope to be doing 5 years from now”.  The answer was Newborn Screening.  With much hard work and passion on their part, I have had the privilege of watching that dream come true.  Even more special is hearing the success stories of the children whose lives have been saved because of it.

    What’s your favorite JMF memory? I have so many over the years it would be hard to pick just one.  Meeting the families and the doctors who care for them at our New York City KIDs Days and spending time with them is special. Watching the kids having a great time and forgetting about PI for just a little while personalizes the work of The Foundation for me.

    Favorite Quote: “Start each day with a grateful heart”  ~ unknown

    To Sum Up! My favorite thing to do is to cook a good meal for my friends and family. I enjoy growing a herb garden each summer and incorporating the herbs into the dishes I cook.  I love to garden and look forward to watching the flowers emerge each spring, coloring the landscape.

  • Jeffrey Modell Foundation Launches First CHILDREN!® Project

    The Jeffrey Modell Foundation recently launched CHILDREN!®, the Child Health Initiative to Lessen Disease through Research and Education Now!. Focused on innovative ways to better educate the medical community and better the lives of those affected by Primary Immunodeficiency, we're concentrating on the next generation of expert immunologists.

    The focus of this grant program is to investigate immunological disorders, control of infectious disease, initiatives to decrease infant mortality and healthcare disparities.

    Read full release here.

  • Study Reveals $40 Billion in Potential Savings in Healthcare Costs

    JMF is now launching SPIRIT software, capable of saving up to $40 billion in unnecessary healthcare costs.

    It is estimated by the U.S. National Institutes of Health (NIH) that as many as 3-6 million Americans are affected by PI, and most are not aware of the underlying cause of their repeated infections. An initial study demonstrated that annually an undiagnosed patient costs the healthcare system an average of $108,462 more than a diagnosed patient –representing more than $40 billion in unnecessary healthcare cost in the US.

    This highly advanced screening tool will be introduced to major healthcare organizations in 2015.

    Read the full release here.

  • "UCLA Researchers Announce Gene Therapy Cure for 18 ‘Bubble Baby’ Patients"

    Led by Dr. Donald Kohn, researchers at UCLA announced today that they had cured 18 children who were born with Severe Combined Immunodeficiency (SCID).

    “All of the children with SCID that I have treated in these stem cell clinical trials would have died in a year or less without this gene therapy. Instead they are all thriving with fully functioning immune systems.” –Dr. Donald Kohn

    Read more about this story here.

  • Couple Extends Multi-Million Dollar Commitment to Screen Every Newborn Baby For "Bubble Boy" Disease

    Four million newborns in the United States are routinely screened annually for a variety of conditions.

    Severe Combined Immunodeficiency (SCID) is a life threatening condition in which infants fail to develop a normal immune system.  Undetected and untreated, the baby will die before his or her first birthday.  But with newborn screening, they can be diagnosed and cured with a bone marrow transplant.

    Three years ago, no states were screening babies for SCID.  The Jeffrey Modell Foundation (JMF) contributed over $3 million towards programs for Newborn Screening for SCID.

    As explained by Vicki Modell, "We have heard from too many grieving parents whose babies were tragically lost to SCID.  But now that we can screen and cure babies that are affected, we cannot stand by for another day, and watch precious babies die.  We will fight for these babies and offer funding to every state that implements a Population Screening Program for SCID.  This is an historic journey, and we hope to wipe out this fatal disease forever."

    Read the full release here.

  • Global PI Village "Spotlight" Series: Jessica Quinn

    Name: Jessica Quinn http://downloads.info4pi.org/images/Beakers-resize-248x229-533edc5534af4-original

    When did you join JMF? March 2014

    Role: Scientific Director – Oversight of all things “science” at the Foundation. This involves global collaboration to coordinate our 3 Research Programs, publications in scientific journals, JMF’s annual Physician Survey, our current poliovirus excretion prevalence study (for which we have partnered with the Bill and Melinda Gates Foundation, the Task Force for Global Health, the CDC, and Global Polio Lab Network), and any/all additional projects that may arise!

    What inspires you? Passion, genuine kindness, and resilience.

    What aspect of JMF do you find most special? The passion behind the Foundation and the breadth of its reach. JMF’s history of achievements is remarkable, as is its goals for the future. I find contentment in the fact that no matter the task at hand, it all comes back to a single, meaningful mission: improve and save lives. This makes me proud to come to work every day.

    What’s your favorite JMF memory? The WPIW celebration at JMF Headquarters in NYC in April of 2014. At that point, I’d been working here for only 1 month and was still learning the ins and outs of the Foundation. That day I was lucky enough to meet Jared, the last baby screened in a Newborn Screening pilot program in Puerto Rico who happened to have SCID. Because he was screened as a newborn, Jared was able to receive a bone marrow transplant, which saved his life. Jared was able to be with us that day, to run around and play, because of a simple test. This put things in perspective for me and solidified the already poignant mission of the Foundation in my heart and mind.

    Favorite Quote: “Never touch anything with half of your heart” and “If I look at the mass I will never act. If I look at the one, I will.”

    To Sum Up! I’m a daughter/sister/aunt/friend/woman with a passion for science, public health, and helping others however I’m able. I love to workout, travel, read, and cuddle with my dog, Putty!

  • Staying Informed About the Immune System!

    One of the Jeffrey Modell Foundation’s core principles is education.  We would like to specifically discuss the importance of the immune system, the body’s first line of defense against disease.

    Harnessing the power of the immune system represents one of the single greatest disease-fighting and life-saving strategies that biomedical science has to offer.

    Below you will find more information to help better explain how the immune system works, about vaccines, autoimmune and inflammatory diseases.

    Help us further educate the world by sharing these slides with your friends, family, teachers and doctors – every contribution helps make the world a better place!

    http://downloads.info4pi.org/images/Why-Immunology---5-slides-resize-899x426-568560607011b-original

  • "Simple test at birth saves baby from ravaging disease"

    Ezra Dixon was nearly the 23,000th baby in Washington State tested since screening became law at the start of the year, and he was the first hit.  He was born after state-mandated testing for SCID and with early detection; doctors were able to save his life.

    The Jeffrey Modell Foundation continues to advocate for mandatory Newborn Screening for SCID across the country, and the Dixon’s story is proof as to why this is a life-saving and life-changing necessity!

    Read the inspiring story here reported on by KOMO News!

  • Jeffrey Modell Foundation Awards $1 Million for Translational Research

    It is estimated that as many as 10 million people, are living with PI worldwide. Over the past decade, the information and detection of Primary Immunodeficiency has greatly expanded, and knowledge of causative genes continues to rapidly grow. 

    In this context, JMF established the Translational Research Program to expand upon the knowledge and understanding of Primary Immunodeficiency; how to identify, diagnose and treat.

    Translational Research grants are awarded to physicians and scientists who are prominent in their field with vast expertise in PI, from countries all over the world.

    Read the full release here

  • “NIH-Supported Study Suggests that Early Diagnosis of SCID leads to High Survival Rates”

    In a recently released NIH study, babies identified with SCID had a higher survival rate when diagnosed I the first 3.5 months of life.

    “Our findings indicate that early transplantation and absence of infection are critical to achieving the best transplant outcomes for infants with this serious disorder,” said Daniel Rotrosen, M.D., director of NIAID’s Division of Allery, Immunology, and Transplantation, National Institutes of Health (NIH).

    “The results of this study highlight the important role of newborn screening for SCID” according to NIAID Director Anthony S. Fauci, M.D..

    Read more about the NIH’s studies here.

    http://www.nih.gov/news/health/aug2014/niaid-20.htm

    http://www.nih.gov/news/health/jul2014/niaid-31.htm

    Or visit the NIAID NIH website.

  • National Association of School Nurses Campaign

    JMF teams up with CSL Behring and National Association of School Nurses to help reduce the number of undiagnosed cases of Primary Immunodeficiency in school children.

    English and Spanish-version posters created by the Jeffrey Modell Foundation will be mailed to approximately 16,000 NASN members; school nurses reach 98 percent of the 50 million students in U.S. public schools, grades K-12.

    "Educating school nurses about the immune system and the 10 Warning Signs of primary immunodeficiency will lead to early and precise diagnosis, appropriate treatment and improved quality of life." – Vicki Modell

    Read the full release here.

  • “'Bubble boy' disorder more common than thought”

    Researchers, in what's considered the first look at the national impact of Severe Combined Immune Deficiency (SCID), or “Bubble Boy Disorder” found that 1 in 58,000 newborns are affected instead of 1 in 100,000 as previously estimated on much more limited data.  This highlights the importance of screening newborns for conditions that can be treated.

    Read the full article here.

  • From Bench to Bedside and Beyond..!

    The Translational Research Program provides support for innovative and novel investigations in Primary Immunodeficiency.  We aspire to encourage researchers and physicians from all over the world to apply in order to enhance the understanding and knowledge of the immune system.

    The Jeffrey Modell Foundation has long been a global advocate for the awareness and education of Primary Immunodeficiency.  We are a cross-continental team, made up of a vast group of brilliant people, each with their own master craft.  In order to keep our team as forward-thinking as possible, we created the Translation Research Program – to further strengthen our community.

    Our mission is clear; the goal is to improve the quality of life of those affected by Primary Immunodeficiency!

    Grants are peer reviewed and scored by the JMF Research Committee, consisting of physicians and scientists with an extensive depth of knowledge of Immunology. This year we have been fortunate enough to receive several outstanding and inspiring applicants from all over the world. 

    All of our awardees are wonderful additions with remarkable talent whose contributions are sure to be invaluable, and to bring us one step closer to more meaningful treatments and cures for Primary Immunodeficiency.

    Cycle One Recipients:

    • One physician from Descartes University Laboratory of Human Genetics of Infectious Diseases, Hôpital Necker-Enfants Malade in Paris, France, has been honored with an award for the proposal titled “Novel Primary Immunodeficiencies Underlying Invasive Fungal Diseases”. 
    • Another physician from Harvard Medical School, Children’s Hospital Boston in Boston, Massachusetts, will also receive an award for the proposal titled “Development of a Genomic Platform for the Sensitive Diagnosis of Primary Immunodeficiencies”.

     

    Cycle Two Recipients:

    • One physician from Pediatrics Clinic and Institute for Molecular Medicine, in Brescia, Italy, will conduct work based on the proposal entitled “Genotype-phenotype correlation and functional in vitro studies in XLA patients: evaluation of predictive parameters for clinical outcome and prognosis”. 
    • Another physician from General Pediatric Department, Pediatric Immunology Services, “Edmond and Lilly Safra” Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel was awarded for the proposal titled “Understanding the genetics and pathomechanisms of primary Immunodeficiencies of neutrophils in Israeli and Palestinian patients – bridging between two cultures”. 
    • The third honoree for cycle 2, from Children’s Research Institute in Washington D.C., USA, will be conducting research based on the proposal titled “Adoptive Immunotherapy for Treatment of Viral Infections in Primary Immunodeficiency Disorders”.

     

    Cycle Three Recipients:

    • One physician from the Experimental Laboratory Immunology, Department of Microbiology and Immunology, Catholic University of Leuven, Belgium will conduct research based on the proposal “Unraveling defects in the Toll-like receptor and NF-kB pathway”
    • The second physician from Baylor College of Medicine, Texas, USA was awarded for the proposal titled “An Emerging Paradigm: Novel Primary Immunodeficiency Diseases Caused By Two-Gene Defects”

    If you would like any additional information about the JMF Translational Research Program connect with the Jeffrey Modell Foundation at research@jmfworld.org.

  • Let’s Be Specific!

    Did you know that there are currently more than 250 different Primary Immunodeficiency defects?

    The Primary Immunodeficiency umbrella covers a wide array of disorders, each with its own characteristics, phenotypes and genotypes.  Along with limited knowledge of how some PI’s are identified, managed and cured, patients require unique and individual medical attention.

    In order to help bridge the gap between diagnosis and treatment, the Jeffrey Modell Foundation set up the Specific Defect Research Program to support research to study specific defects of the immune system, leading to a better understanding of these conditions. JMF’s database includes high numbers of various genotypes collected from around the world, providing a wealth of knowledge and a collaboration platform for physicians and scientists everywhere.

    JMF encourages the Primary Immunodeficiency community to expand upon this list of Specific Defect Research Grants. Awards are granted on a rolling basis throughout the year, and open to both United States and international applicants.

    As of the middle of 2014, there are 6 Specific Defect Research Grants that have been awarded!

    • Chronic Mucocutaneous Candidiasis Disease
    • X-Linked Hyper IgM syndrome
    • IPEX/IPEX like syndromes
    • RAG1/RAG2 deficiencies
    • Zap70 deficiency
    • FOXP3/IPEX
    • CVID

    We are extremely proud of our grant recipients, excited about their research and enthusiastic about the discoveries each will uncover - further expanding our knowledge about Primary Immunodeficiency and how to cure patients.

    If you would like any additional information about the JMF Specific Defect Research Program connect with us at research@jmfworld.org.

  • Jeffrey Modell Foundation Launches New Website

    The Jeffrey Modell Foundation is proud to announce the launch of our new website, the Global PI Village.

    The aim of our Global Village is to bring our diverse community of patients, families, friends, physicians, nurses, and patient organizations from around the world closer together.

    Upon entering the Village, you will meet your personal guide, better known as the Village Mayor. He will direct you to unique research programs for Expert Immunologists, to FAQs and educational materials for patients and families, to our advocacy and awareness efforts, or to our Café to connect with members of our community.

    Wherever your journey takes you, the Foundation is here to help you reach your destination. We now have the opportunity to help diagnose more patients, improve their quality of life, advance new treatments, and ultimately, find cures for Primary Immunodeficiency.

    “Our community can now reach all corners of the globe. No ocean or border can prevent us from reaching new heights and growing together,” says Co-Founder Vicki Modell.

    We are honored to be your number-one global resource for up-to-date information and support and would like to officially welcome you to the neighborhood!

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