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“Do Something” Film

Young parents Fred and Vicki Modell are overjoyed by the arrival of their first child, a perfect baby boy they name Jeffrey. But just months later, it becomes clear that something is wrong. Jeffrey is diagnosed with a rare disease that leaves him frequently sick and perilously susceptible to even the most common cold. He begs his parents to “Do Something” and though they desperately try, Jeffrey ultimately succumbs to his illness at the age of 15.

Out of their devastating loss, Fred and Vicki turn to their enduring love for each other to find the strength to fulfill their promise to Jeffrey and they resolve to ‘do something.’ With just $500 in the bank, the couple sets out in search for answers to what took his life. Guided by Jeffrey’s memory and the hope to help just one child, Fred and Vicki turn pain into purpose and end up touching the lives of parents and children all across the world. Millions of lives have been forever changed because of Fred and Vicki's determination to “Do Something.”

Click here to watch the film or visit dosomethingdoc.com to learn more.

Vicki’s Voice Blog

Welcome to JMF’s blog, Vicki’s Voice! We love hearing from people in our community, and our blog provides a meaningful platform for us to communicate and connect. Here on the blog, we share more personal stories about our programs, patient experiences, Foundation milestones, caregiver health, updates from the lab, and more topics to support our global PI community.

Do you have a request or suggestion for future topics? Share your ideas by sending us an email: immunews@jmfworld.org.

Educational Materials for Physicians, Researchers and Nurses

An essential part of our mission is creating and disseminating useful educational materials that can be used by all physicians and researchers, nurses, residents, post-doctoral fellows, and other immunology specialists to encourage awareness and knowledge about Primary Immunodeficiency within the healthcare workforce. This group of professionals is the first line of defense, and they play an essential role in helping people living with PI to stay healthy, educated, and safe!

Our resources can be shared with parents, friends, school communities, and families, to help recognize the warning signs and encourage proper diagnosis and expert care. 

It’s our hope that these materials—which are updated frequently—will help to improve PI management, clinical recognition and care, and ultimately, save more lives. Read, download, and share them from our website. Together, we can help to spread awareness and encourage better PI education! 

Types of Primary Immunodeficiency

Did you know that there are more than 450 unique Primary Immunodeficiency disorders that impact the immune system? Primary Immunodeficiency can be difficult to diagnose, which may result in a lengthy diagnostic odyssey when you and your family are simply searching for answers. 

To help ease the diagnostic journey, we have compiled a list of specific disorders on our website, available here. Our mission is to reduce the diagnostic odyssey so that people living with PI can avoid interruptions at work, school, and other important areas of life. Thanks to the remarkable advances in immunology and genetic sequencing, there are more options than ever to help ensure the earliest possible diagnosis, personalized treatment options, fewer and less severe infections, and the chance to live a more hopeful and full life! 

Be sure to check out the 10 Warning Signs of PI in more than 50 languages if you or someone you know is experiencing repeated infections. Always remember to consult with your physician about your diagnosis or to answer any questions about your specific case. Need an immunologist? Find one here!

Donate Plasma to Save a Life

Did you know that plasma can’t be made in a lab? Donated plasma from healthy donors is used to create lifesaving treatments for people living with PI to help their immune systems stay healthy and strong!

Every year it takes over 130 plasma donations to treat just one patient living with PI. Plasma donation is performed by trained nurses and takes, on average, less than an hour to complete the procedure. If you live in the U.S., you’ll even receive compensation for your donation!

For people living with a PI, plasma may be the difference between life and death. Want to learn more about the importance of plasma donation? Read our interview with Dr. Pere Soler- Palacín, Director of the Jeffrey Modell Diagnostic and Research Center in Barcelona, Spain. 

Find a plasma donation center near you today to provide a life-sustaining and lifesaving treatment for people living with PI around the world. Our community thanks you!

ESID Attendee Interview – Gráinne O’Toole

To kick off the new year, we're pleased to share a new installment of our interview series about attendee experiences at global immunology meetings. Our WINRN travel grant provides funding to nurses that supports travel to key meetings that highlight Primary Immunodeficiency. It’s our hope that this grant enhances nurse education, awareness, and encourages new connections and collaborations with colleagues across the field.

Gráinne O’Toole is a Senior Research Nurse of gene therapy at the Great Ormond Street Hospital for Children in London, England. Gráinne received a WINRN grant to support her attendance at the European Society for Immunodeficiencies (ESID) last October. We hope you enjoy reading about her meeting experience!

  1. What made you interested in immunology? Please share a brief overview of your career and current work.
    As with all my career choices so far – I kind of fell into immunology. I have worked for 8 years in children’s cancer nursing, and an opportunity to work as a research nurse in gene therapy came up In London. I’ve seen how newer treatments have provided treatment options to patients where none were previously available, and I wanted to involved with research at this stage. It’s a complex specialty but there’s lots to learn and really exciting treatments being developed for these conditions. 
     
  2. Why did you want to attend ESID? 
    ESID has a large representation of immunology experts from medical, scientific, patient and nursing immunology fields. It has a large amount of knowledge available for those who attend. I really like that patients and families have such a strong representation at this conference also. 
     
  3. What was the biggest takeaway of attending ESID? 
    I’m really excited to look further into patient experiences of treatment. We’ve learned a lot over the past few decades that psychosocial supports are as important to patients especially children, and I would love to highlight this in the PID population so we can ensure adequate resources are allocated for patients and their families for this type of care. 
     
  4. Is there a specific research effort or development in the field of immunology that you’re particularly excited about?
    As I’m working in gene therapy, it’s naturally the area where I have the most interest. 
     
  5. How will you take what you learned at the ESID conference and apply it to your daily work?
    I made some really good contacts with several Immunology pediatric and adult hospitals. Much of the focus of INGID presentations was on psychological supports and transition, and we plan to adopt some of the templates discussed to our patient care to help improve transition to adult care. 
     
  6. Do you have any advice for first-time conference attendees?
    Sounds really basic – but have a pen/paper because there’s no way you’ll remember everything you’ll have an opportunity to hear. If possible, scope out the program ahead of time to identify sessions that will improve your knowledge, but also select ones that may help broaden your view on a topic. AT ESID participants can attend INGID, ESID and IPOPI sessions which helps give different viewpoints. It is a really collaborative approach as we all have lots to learn from each other.  
     
  7. What is the most rewarding aspect of your career?
    I love working with children. They are so resilient and even on a really tough day for them you’ll usually see them smiling through. I really enjoy working in these areas as you establish a good relationship with children and families as you nurse them throughout their treatment. 
     
  8. Is there anything else you’d like to share with our community?
    There are lots of supports available to help learn more about immunology if people are interested—don’t be afraid to ask.

New Year's Wishes - Do Something More

Happy New Year from all of us at the Jeffrey Modell Foundation! This year, our New Year's resolution is to Do Something MORE.

As we embark on our 36th year of operation, we look forward to continuing to strengthen our programs to better serve the global PI community. We’ll keep building on our momentum from last year to meet new challenges, seize opportunities, and continue funding scientific research that will improve the quality of life for patients living with PI around the world. 

We encourage you to kick off 2023 by donating plasma and giving the gift of life! Not only will you save lives, but you’ll also be compensated for your time if you live in the US. Find a plasma donation center near you

We look forward to connecting with new members of our global PI community throughout the year!

End of Year Wishes 2022

On these final days of 2022, we want to extend a heartfelt thanks to our community of friends who make our global PI village more remarkable each passing year. You inspire and motivate us, and constantly compel us to Do Something MORE

We’re reminded to not take one day for granted, celebrate each other, and support the causes we care about most. Please join us in celebrating Jeffrey’s legacy this year by becoming a plasma donor, donating to support one of our groundbreaking programs, purchasing a piece of JMF merchandise, or watching our documentary on YouTube with your family and friends. 

We are looking forward to beginning 2023 together as we continue to create brighter and healthier futures for PI patients and their families worldwide. 

From all of us at the Jeffrey Modell Foundation, we wish you and your family a new year full of hope and health! 

Newborn Screening Program Highlights

Since 1987, our core mission has been earliest possible diagnosis to save as many lives as we can. Without diagnosis, life expectancy for SCID patients is only one year, so implementing newborn screening for SCID globally continues to be one of our top priorities. 

We lobbied to add SCID to the national core panel for years, and in 2010, the US Secretary of Health and Human Services announced a formal recommendation. It was the first addition in twelve years! But we didn’t stop there: in 2018, Newborn Screening for SCID was officially implemented in all 50 states, Washington D.C., Puerto Rico, and the Navajo Nation. 

Nearly 4 million newborns are screened annually in the U.S. alone—imagine what that number could be on a global scale if every country was participating in a screening program?

Newborn screening saves lives—it’s that simple! See if your country participates in newborn screening for SCID here. Don’t see your country listed? The best way to Do Something is to use your voice to encourage action. Send a note to your representatives using our template letter or share with your community on social media. 

Updates from the Lab – December 2022

We’re delighted to share our December issue of Updates from the Lab today! As we close out on our thirty-fifth year of operation, we’re grateful for the ongoing support of our Jeffrey Modell Centers Network physicians and scientists around the world who work tirelessly to progress research efforts for Primary Immunodeficiency. 

Breaking News
We are pleased to share that Russia has initiated a newborn screening for SCID pilot and will be implementing country-wide screening on January 1, 2023. This is extraordinary news that will help to save the lives of sick newborns in Russia. Early diagnosis as a result of newborn screening is key to providing life-saving treatments. 

Translational Research Program
We are thrilled to announce that we awarded two grants to outstanding applicants for Cycle 10 of our Translational Research program. The next application cycle opens on January 16th, 2023. Click here to read more about the application process and timeline.

c.h.i.l.d.r.e.n!
We encourage physicians investigating immunological disorders, infectious disease, and initiatives to decrease infant mortality to apply throughout the year for our c.h.i.l.d.r.e.n! research program. Learn more and apply here.

Specific Defect
Investigators researching the mechanisms and presentation of specific defects of the immune system will gain access to our international database throughout collaboration efforts as part of the Specific Defect research program. Learn more and apply here.

Program Highlight: When I Grow Up PSA Campaign

We’ve all been asked the question, “what do you want to be when you grow up?” For patients living with Primary Immunodeficiency, the chance to live full, healthy lives isn’t always guaranteed. 

We created our first Public Service Announcement (PSA) “When I Grow Up” to encourage optimism and spread awareness for PI. Since 2004, we have reached thousands of families around the world with our PSAs on TV, in airports, on the radio, in bus shelters, on billboards, and even in Times Square!

It is our hope that when people read about children’s dreams to grow up and live happy, healthy lives, they will join our cause and answer the call to action. Over the years, the PSA campaign has led to a significant increase in the number of patients diagnosed and treated and helped to improve the quality of life of so many worldwide.

Together, let’s take the opportunity to help turn patient’s fear and uncertainty into laughter and the chance to thrive and feel empowered. If you see one of or PSAs when you’re out and about, snap a photo and share it with your own community to join our cause. You can also send it to us for a chance to be featured on our social media channels. Let’s continue to save more lives together!

Program Highlight - Jeffrey Modell Centers Network

Over twenty years ago, we established the Jeffrey Modell Centers Network (JMCN) to meet the rising need for referrals and specialized centers for patients identified with Primary Immunodeficiency worldwide. It was our hope that our experts at these centers would improve the quality of life and reduce mortality and morbidity of patients while impacting the field of immunology on a global scale. To this day, the JMCN continues to expand, and we are grateful to see remarkable growth each year.

When we started the Foundation, one of our goals was to increase awareness for PI within the physician community so that more patients would be properly and expertly diagnosed. We are thrilled to have witnessed a drastic improvement in PI patient outcomes, thanks to a significant increase in the number of diagnosed and treated patients across the globe. 

Our JMCN experts consistently contribute to our cross-continental network, discovering and sharing invaluable medical developments and encouraging better access to care for more than 285,000 patients. We encourage investigators to connect with other physicians to coordinate studies, develop research programs, and gain a better understanding of genetic mutations to ensure earliest possible diagnosis and meaningful treatment options.

It is our sincere hope that the JMCN continues to be a critical catalyst for scientific discovery and progress in support of our work to support patients living with PI. 

Need an immunologist? Find one of our JMCN Expert Immunologists by using the search tool on our website.

KIDS Day Program

When we started the Foundation in 1987, one of our priorities was to make sure that no other child living with Primary Immunodeficiency would have to be alone. We created Kids with Immune DeficiencieS(KIDS) Day in 1988 to provide children living with PI a fun-filled day away from hospitals and doctor’s offices to meet each other, connect, and develop friendships in a casual environment. The program started for our JMF Kids, but now we’re delighted to include patients from ages 0-102!

KIDS Day is provided at no cost to patients and families. This community event is a great way to meet other patients and families who are managing a PI diagnosis and expand your support network. It’s our hope that these events provide some light and fun for our JMF community members who frequently miss days of their normal life stuck in doctor’s offices or sick at home.

There have been over 600 KIDS Days since we started the program, and we are thrilled that in-person events are once again becoming a safe possibility. We’ve funded personal tours of zoos, visits to museums, baseball games, movie nights, and more. 

We are excited to kick-off our 2023 KIDS Day events soon. Ask your immunologist if they participate in KIDS Day to learn more! If there isn’t a KIDS Day in your area, work with your physicians and nurses to establish one for your own PI community!

“Jeffrey’s Insights” Genetic Sequencing Program

In 2019, we proudly introduced our no-cost genetic sequencing pilot program, “Jeffrey’s Insights,” for patients within the Jeffrey Modell Centers Network (JMCN) living with an underlying PI but no genetic diagnosis. The pilot was so successful that we decided to expand the program globally to our more than 400 JMCN centers in early 2020 to provide an opportunity for sequencing to more patients.

We created “Jeffrey’s Insights” to support of our mission of earliest possible diagnosis. We know that proper genetic sequencing helps to identify specific genetic defects, enhances clinical management, and enables physicians to establish earlier and more effective treatment for their patients. “Jeffrey’s Insights” offers a sense of relief for patients and their families who may be suffering from unnecessary stress and poor quality of life and a chance to better understand unique genetic defects. 

Incredibly, nearly half of the patients who participated in genetic sequencing through “Jeffrey’s Insights” experienced a change in outcome. Even more remarkably, almost all of the patients who participated in genetic sequencing had their treatment changed based on their results. These are extraordinary results! This is an amazing indication of the benefits that genetic sequencing has for the PI community.  

We’ve heard time and time again from patients living with PI that they’ve had to suffer through a lengthy, inefficient, and expensive diagnostic odyssey.  Unfortunately, genetic sequencing is often inaccessible due to cost, insurance, and limited access to care. It is our hope that the results of “Jeffrey’s Insights,” now and in the future, will encourage better access to genetic sequencing for PI patients around the world and reduce the burden that so many families experience.

To read our most recent publication and learn more about our genetic sequencing efforts, click here.

Do Something this Giving Tuesday

Today is Giving Tuesday! We are proud to recognize the extraordinary efforts of our global community today, and every day. A wonderful way to do good this Giving Tuesday is to sign up to donate plasma and give the gift of life

Every year it takes over 130 plasma donations to treat just one patient with PI. Our global patient community depends on plasma donations from donors like you to live happy and healthy lives. There is currently a desperate need for plasma, and you can be the solution that offers hope for PI patients across the world! 

We urge everyone in our community who meets the screening criteria to join us in our efforts to save more precious lives. Not only will you give the gift of life, but in the United States, but you’ll also be compensated for your time. Find a plasma donation center near you

Another outstanding way to support the PI community this Giving Tuesday is by signing up to join the bone marrow donor registry. This is another fantastic act of kindness that gives people living with PI a second chance at life! It’s simple: if more people join the donor registry, more lives can be saved. To learn more, or to join the bone marrow donor registry, visit Giftoflife.org.

Be sure to speak up, speak out, and use your voice to share the importance of plasma and bone marrow donations. You can also spread the word within your network, join volunteer or advocacy efforts, and share information on social media to educate your community about the benefits of donations to the PI community. 

Together, let’s spread awareness, celebrate scientific progress, and give the gift of life!

Shop for Good at the JMF Store

As we enter the season of giving, we are delighted to share that we’ve launched an online storefront to raise funds in support of our global mission. JMF has been a beacon of hope for the PI community for over 35 years, and we're not stopping now!

We invite you to join us in supporting the global PI community by shopping beautifully designed JMF-branded drinkware, sweatshirts, hats, notebooks, and more. It’s our earnest hope that by wearing and using these special items, you’ll carry our mission with you and help to spread awareness for our cause within your own communities. The more people who learn about PI, the more potential there is to save more precious lives, support innovative research efforts, and fund work towards developing potential future treatments.

Raise awareness about plasma donation, feel good in your t-shirt, and support our cause! We will be adding more items to our online storefront in the coming weeks, so be sure to check back for more updates here and on social media.

We are endlessly inspired by you, our global community, and we thank you for your continued support of our programs and mission.

Grateful for Our Community

On this Thanksgiving eve, I want to take a moment to extend a heartfelt thanks to you, our global PI community. You inspire us, motivate us, and encourage us to Do Something and Do Something MORE each year. We have so much to be thankful for, and we are thankful for all of you every day that we get to celebrate Jeffrey’s life through our work.

It takes a village to make a difference, and none of the outstanding milestones that the Foundation has achieved would be possible without our brilliant Jeffrey Modell Centers Network physicians, researchers, scientists, nurses, patients, and family members who work diligently to make a difference. They constantly compel us to continue our incredible journey together. We have been advocating for the PI community for over 35 years, and we won’t stop now!

Thank you for providing the motivation to meet new challenges, capture opportunities, and advocate for scientific progress so that people living with PI have a chance to live healthy, strong, and happy lives.

From all of us at the Jeffrey Modell Foundation, we wish you a Happy Thanksgiving and send you and your family good wishes of laughter, joy, and health this season!

ESID Attendee Interview - Dr. Maria Pilar Tejada

Today we’re sharing the next installment of our interview series about attendee experiences at global immunology meetings. We are honored to provide grants to support travel to essential immunology conferences as part of our WINMD program.

Dr. Maria Pilar Tejada received a WINMD grant to support her attendance at the European Society for Immunodeficiencies (ESID) meeting where she was accepted to present a poster. Pilar is a Fellow in Pediatric Immunology at Children's Hospital Ricardo Gutierrez in Buenos Aires, Argentina. We hope you enjoy reading about her experience!

What made you interested in immunology? Please share a brief overview of your career and current work.
My name is Maria Pilar Tejada, I’m a pediatrician doing my residency in a Clinical Immunology Fellowship Program at Ricardo Gutierrez's Children's Hospital in Buenos Aires, Argentina. 

When I was studying medicine at the University of Buenos Aires, I started to have a special interest in Immunology, so I studied and became an Immunology Academic Assistant Lecturer for several years while I finished my training as a physician. When I finished my studies, I did my Pediatric Residency at Garrahan’s Children’s Hospital in Buenos Aires. During those years I got advanced knowledge about managing and treating complex pathologies, and I was in contact with children that face an Inborn Error of Immunity (IEI). After this, I applied to one of the most important Immunology units in Buenos Aires at Ricardo Gutierrez’s Children’s Hospital. This fellowship is a strongly intensive formation focused on the diagnosis and follow-up of IEIs. 

From the start of my training as an immunologist, I have been in contact with a lot of patients with IEI and their families, from whom I learn (and still learn) a lot. The diagnosis, following and treatment of these complex diseases make me want to improve my knowledge every day.

Why did you want to attend ESID?
I wanted to attend the ESID meeting because I was accepted to present a poster of a complex case we were following in our immunology unit. The girl that motivated me to write and apply for this experience has a variant in a gene that is recently associated with immunodeficiency, so the management of this patient was challenging since there are few reports with the same variant in the available literature.  

Attending ESID was important for me since it was an opportunity to interact with the specialists that will be presenting the description of this new mutation at the meeting to look ahead to possible therapies. 

What was the biggest takeaway of attending ESID?
The biggest takeaway from attending the ESID meeting this year was the opportunity to share and learn from different cases, increase my knowledge of IEIs, and get new elements to improve my clinical formation. Also, I had the chance to share the case of the complex patient we had in our immunology unit with the professionals that specialize in this disease. 

Is there a specific research effort or development in the field of immunology that you’re particularly excited about?
I am really interested in how gene therapy and bone marrow transplantation are now curative treatments for diseases which only a few years ago were lethal for our patients. At the ESID meeting, I learned that gene therapy is growing by leaps and bounds, but unfortunately in Argentina, we do not have this therapy yet. 

How will you take what you learned at the ESID conference and apply it to your daily work?
I will encourage my working group to read and study some of the new topics that were presented at ESID, and maybe with these new advances, we can arrive at new diagnoses for patients who don’t have one yet and change some of our patient’s treatments.

Do you have any advice for first-time conference attendees?
Do not be afraid! Go, ask, talk. It is a wonderful opportunity to know professionals from all over the world, so do not miss the chance; maybe someone can help you with a tricky patient you have in your work. 

What is the most rewarding aspect of your career?
The most rewarding aspect of my career is the opportunity to be in contact with children with IEI and their families. From the diagnosis of the pathology to the treatment is a long journey and having the chance to accompany them during this process is what I like the most about my career as a pediatrician and as an immunologist now. 

Is there anything else you’d like to share with our community?
Foundations like the Jeffrey Modell Foundation support new immunologists in training like me allow us to participate in international activities like the ESID meeting. As an Argentinean professional, sometimes is difficult for us to attend this type of events so I am grateful for this enormous opportunity.

Updates from the Lab - November 2022

As we sprint towards the end of the year, we’re excited to share the November issue of Updates from the Lab! Read on for this month’s breaking news, research updates, and our recent poster presentation. 

Jeffrey's Insights Poster Presentation at RDCRN Fall Meeting
We were honored to have our poster about our genetic sequencing program, Jeffrey’s Insights, accepted and selected for presentation at the Rare Diseases Clinical Research Network (RDCRN) fall meeting earlier this month. 

The poster highlighted the Foundation's most recent publishing about Jeffrey’s Insights, a no-cost genetic sequencing program that is offered to PI patients through the Jeffrey Modell Centers Network (JMCN). Read our most recent publishing here and view highlights from the poster on our Instagram.

Breaking News 
We are pleased to announce that Slovakia has launched a nationwide pilot program to include SCID as part of its newborn screening panel. 

Since the start of the newly launched pilot program, there has already been one confirmed diagnosis as a result of SCID screening. Read more about newborn screening in Slovakia on the National Screening Center website: https://www.detskanemocnica.sk/skriningove-centrum-novorodencov-sr. 

Translational Research Program
This month we hosted a review meeting to discuss all of the outstanding applications submitted for Cycle 10 of our Translational Research program and select potential grantees. This grant is awarded to investigators researching potential advances in clinical recognition, diagnostic tools, and innovative therapies that will impact overall health outcomes and improve the quality of life of patients living with Primary Immunodeficiency. 

c.h.i.l.d.r.e.n!
We encourage physicians investigating immunological disorders, infectious disease, and initiatives to decrease infant mortality to apply throughout the year for our c.h.i.l.d.r.e.n! research program. Learn more and apply here.

Specific Defect
Investigators researching the mechanisms and presentation of specific defects of the immune system will gain access to our international database throughout collaboration efforts as part of the Specific Defect research program. Learn more and apply here.

ESID Attendee Interview - Agustin Bernacchia

We are delighted to announce our newest Q&A series that will center on sharing attendee experiences at global immunology meetings with our community to emphasize the importance of international collaboration and education. Education is an essential part of our work, and we are honored to provide travel grants to young physicians, researchers, scientists, and nurses to travel to important conferences in the field of Primary Immunodeficiency and Immunology as part of our WINMD program.

Today, we are pleased to share our recent conversation with Agustin Bernacchia, a Biochemist Immunology Resident at Children's Hospital Ricardo Gutierrez in Buenos Aires, Argentina. Agustin was accepted to present a case report at the European Society for Immunodeficiencies (ESID) and received our WINMD grant to support his attendance at the meeting. We hope you enjoy reading about his experience!

What made you interested in immunology? Please share a brief overview of your career and current work.
I studied Biochemistry and since then I have been interested in the role of laboratory tools to improve the diagnosis, follow up and risk stratification in clinical scenarios. In my last year of college, I won a scholarship to do research in hemolytic disease of the newborn. I was involved in the development of a method to improve the use of Rh immunoglobulin prophylaxis. Although it was not related to primary immunodeficiency diseases (PID), it was my first contact with researchers studying immune mechanisms that could ameliorate people suffering from a disease or a pathological condition. 

From that experience, I realized that I wanted to continue working with immune-related disorders, but in a clinical setting. That is why I started a residency (which I recently finished) in clinical immunology in a children's hospital where we mainly study children suspected of inborn errors of immunity (IEI). My current position involves doing functional assays and molecular biology techniques for diagnostic, follow-up, and immune characterization purposes.

Why did you want to attend ESID?
The ESID meeting gathers the most renowned clinicians and scientist who work in the latest advances in clinical management, genetics, and pathophysiology of PID. I always wanted to participate in an international conference that would allow me to learn the latest advances in the field and have the opportunity to interact with colleagues from different parts of the world.

What was the biggest takeaway of attending ESID?
In my opinion, attending workshops of topics related to diagnostic tools and networking with colleagues were the most valuable parts of ESID. The key message for me was that establishing collaborative networks is of essential importance in the study of rare genetic disorders such as PID.

Is there a specific research effort or development in the field of immunology that you’re particularly excited about?
I found the use of the latest technologies, such as transcriptomics, for the immune characterization in novel PIDs very interesting. From a therapeutic standpoint, I was very excited to learn about gene therapy and thymic transplantation.

How will you take what you learned at the ESID conference and apply it to your daily work?
I will try to set up new laboratory tests that will help us to make better therapeutic decisions with our patients.

Do you have any advice for first-time conference attendees?
This is an excellent opportunity to learn and to boost your career, so don't be afraid to ask any question and make immunology friends! 

What is the most rewarding aspect of your career?
I find it very rewarding to learn how our immune system works while also helping people who suffer from immune-related disorders. 

Is there anything else you’d like to share with our community?
It is very important to emphasize the huge help that these grants give us. Given the economic crisis that is affecting so many countries in the world, financial aid is of utter importance to promote collaborative networks and enhance education of young health professionals in training that otherwise could not afford to attend these meetings. 

Read more about our travel grants and apply here.

Updates from the Lab – October 2022

We’re back with another issue of Updates from the Lab! Read on for this month’s breaking news and background on our three research programs. 

Breaking News 

1. We are thrilled to share that British Columbia has added SCID to its newborn screening program. 

“The importance of a robust screening program is paramount to ensuring the future health of newborns,” said Adrian Dix, Minister of Health.

You can read the full press release here: https://news.gov.bc.ca/releases/2022HLTH0197-001536.

2. Pharming Group N.V. announces that the US Food and Drug Administration (FDA) has accepted for priority review its New Drug Application (NDA) for leniolisib, an oral, selective phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, to treat the rare primary immunodeficiency activated phosphoinositide 3-kinase delta syndrome (APDS) in adults and adolescents 12 years of age and older in the US. 

The FDA has assigned a Prescription Drug User Fee Act (PDUFA) goal date of March 29, 2023, aligned with a Priority Review classification. Read the press release.

Translational Research Program
Final review and consideration for Cycle 10 of our Translational Research program will be taking place in next month! This grant is awarded to investigators researching potential advances in clinical recognition, diagnostic tools, and innovative therapies that will impact overall health outcomes and improve the quality of life of patients living with Primary Immunodeficiency. 

Specific Defect
Investigators researching the mechanisms and presentation of specific defects of the immune system will gain access to our international database throughout collaboration efforts as part of the Specific Defect research program. Applications are rolling.

c.h.i.l.d.r.e.n!
We encourage physicians investigating immunological disorders, infectious disease, and initiatives to decrease infant mortality to apply throughout the year for our c.h.i.l.d.r.e.n! research program. 

October is Health Literacy Month

October marks Health Literacy Month. This month, health leaders and organizations across the US are working to encourage people and organizations to make health information accessible and easy for everyone to understand. 

Health literacy helps to improve overall health outcomes, which is an essential part of our mission. For 35 years, we’ve been dedicated to supporting the PI community and encouraging public awareness about PI by making information available and accessible worldwide to promote earliest possible diagnosis. 

For PI patients, a better understanding of their disease and access to proper treatment may give them a better chance of survival and put an end to their diagnostic odyssey. We are committed to providing accurate and up-to-date information for our global patient community, which is why we created the 10 Warning Signs of PI poster to ensure earliest possible diagnosis.

If you or someone you know is affected by two or more of the warning signs, speak to a physician about the possible presence of an underlying Primary Immunodeficiency. You can find the 10 Warning Signs in over 40 languages on our website: https://info4pi.org/library/educational-materials/?slug=10-warning-signs-international. Together, we can improve health literacy about PI worldwide! 

ESID Attendee Interview - Agustin Bernacchia

We are delighted to announce our newest Q&A series that will center on sharing attendee experiences at global immunology meetings with our community to emphasize the importance of international collaboration and education. Education is an essential part of our work, and we are honored to provide travel grants to young physicians, researchers, scientists, and nurses to travel to important conferences in the field of Primary Immunodeficiency and Immunology as part of our WINMD program.

Today, we are pleased to share our recent conversation with Agustin Bernacchia, a Biochemist Immunology Resident at Children's Hospital Ricardo Gutierrez in Buenos Aires, Argentina. Agustin was accepted to present a case report at the European Society for Immunodeficiencies (ESID) and received our WINMD grant to support his attendance at the meeting. We hope you enjoy reading about his experience!

What made you interested in immunology? Please share a brief overview of your career and current work.
I studied Biochemistry and since then I have been interested in the role of laboratory tools to improve the diagnosis, follow up and risk stratification in clinical scenarios. In my last year of college, I won a scholarship to do research in hemolytic disease of the newborn. I was involved in the development of a method to improve the use of Rh immunoglobulin prophylaxis. Although it was not related to primary immunodeficiency diseases (PID), it was my first contact with researchers studying immune mechanisms that could ameliorate people suffering from a disease or a pathological condition. 

From that experience, I realized that I wanted to continue working with immune-related disorders, but in a clinical setting. That is why I started a residency (which I recently finished) in clinical immunology in a children's hospital where we mainly study children suspected of inborn errors of immunity (IEI). My current position involves doing functional assays and molecular biology techniques for diagnostic, follow-up, and immune characterization purposes.

Why did you want to attend ESID?
The ESID meeting gathers the most renowned clinicians and scientist who work in the latest advances in clinical management, genetics, and pathophysiology of PID. I always wanted to participate in an international conference that would allow me to learn the latest advances in the field and have the opportunity to interact with colleagues from different parts of the world.

What was the biggest takeaway of attending ESID?
In my opinion, attending workshops of topics related to diagnostic tools and networking with colleagues were the most valuable parts of ESID. The key message for me was that establishing collaborative networks is of essential importance in the study of rare genetic disorders such as PID.

Is there a specific research effort or development in the field of immunology that you’re particularly excited about?
I found the use of the latest technologies, such as transcriptomics, for the immune characterization in novel PIDs very interesting. From a therapeutic standpoint, I was very excited to learn about gene therapy and thymic transplantation.

How will you take what you learned at the ESID conference and apply it to your daily work?
I will try to set up new laboratory tests that will help us to make better therapeutic decisions with our patients.

Do you have any advice for first-time conference attendees?
This is an excellent opportunity to learn and to boost your career, so don't be afraid to ask any question and make immunology friends! 

What is the most rewarding aspect of your career?
I find it very rewarding to learn how our immune system works while also helping people who suffer from immune-related disorders. 

Is there anything else you’d like to share with our community?
It is very important to emphasize the huge help that these grants give us. Given the economic crisis that is affecting so many countries in the world, financial aid is of utter importance to promote collaborative networks and enhance education of young health professionals in training that otherwise could not afford to attend these meetings. 

Read more about our travel grants and apply here.

Welcome to our community center, the Internet Café! Get to know JMF by reading Vicki’s blog, follow us on social media, and signup for our newsletter to learn more about our journey to support PI patients worldwide!
  • Welcome to our community center, the Internet Café! Get to know JMF by reading Vicki’s blog, follow us on social media, and signup for our newsletter to learn more about our journey to support PI patients worldwide!
  • When you join us on Facebook, Twitter, Instagram, YouTube, LinkedIn or TikTok you are becoming, part of a growing community, sharing similar experiences and questions.