This is where we’ll post our top stories and breaking news updates across different Foundation focus areas. Be sure to check back often!
We are pleased to share the Heart of Genetic Counseling award, which honors genetic counselors for their excellence in patient care during some of the most challenging times along their diagnostic journey.
Many members of our PI community have benefited from the insights, compassion, and knowledge of genetic counselors through our “Jeffrey’s Insights” program to better understand their diagnosis and make decisions about their treatment and care options.
If you would like to recognize your genetic counselor with a nomination, we encourage you to answer a few questions to share how they helped you and your family better understand your (or your loved one’s) disease and explain your journey towards diagnosis, treatment, and improved quality of life. Select genetic counselors may be featured in a book and honored during an award ceremony. Please review the full details and submit your nominations at www.GC-heart.com.
Pharming Group N.V. announces that the US Food and Drug Administration (FDA) has approved Joenja® (leniolisib), 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. Joenja®, an oral, selective phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, is the first and only treatment approved in the US for APDS, a rare and progressive primary immunodeficiency.
On behalf of Horizon Therapeutics, we are excited to announce that the 2023 application for Horizon’s #Rareis program is now open to adults living with rare diseases (17+).
The #RAREis Scholarship Fund will provide $5,000 grants to 70 U.S. adults living with a rare disease to pursue a variety of educational activities. Horizon’s partner, EveryLife Foundation for Rare Diseases will continue to implement and manage the scholarship, with a $1 million, five-year commitment from Horizon, which was announced in 2020. For more information on #RAREis, visit the website.
For more detailed information about the application requirements and process, please visit: https://everylifefoundation.org/rare-scholarship. The application deadline is April 13 at 2 p.m. ET.
The Jeffrey Modell Foundation and Veritas, a letsgetchecked company, focused on genome and exome sequencing and their clinical interpretation, announced today a collaboration agreement to increase genomic diagnosis in the field of immunological disorders.
“We are excited to begin our journey with Veritas to enhance our gene sequencing program and continue to give hope, improve the quality of life, and in some cases, cure children with PI worldwide.” – Vicki and Fred Modell, Co-Founders, Jeffrey Modell Foundation.
Read the full press release here.
November 30, 2022 – The Jeffrey Modell Foundation is pleased to share that Russia has initiated a SCID newborn screening 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 enable physicians to provide life-saving treatments. This addition to Russia’s newborn screening panel will help to save countless infants facing life-threatening illnesses.
See if your country is participating in a newborn screening program on our website.
November 2022 - A new poster about the Jeffrey Modell Foundation's genetic sequencing program, “Jeffrey's Insights,” was accepted 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). Earliest possible diagnosis is a key aim of the Foundation's mission, and genetic sequencing offers specific insights that can truly improve quality of life for those living with PI!
Thanks to the RDCRN for selecting the poster, encouraging the Foundation's work, and sharing the Foundation's ongoing mission to find potential cures PI worldwide. Read the most recent publishing here and view the poster below:
November 7, 2022 – We are pleased to announce that Slovakia has launched a nationwide pilot program to include SCID in 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.
Over the years, The Jeffrey Modell Foundation has expanded its global efforts to advocate for newborn screening and will continue to do so until every country is participating in a comprehensive newborn screening program. See if your country participates in a newborn screening program on our website: https://info4pi.org/town-hall/newborn-screening.
We encourage our community to email us with any questions or requests for materials at email@example.com to join our efforts to secure newborn screening worldwide.
October 19, 2022 – 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.
Over the years, The Jeffrey Modell Foundation has expanded its global efforts to advocate for newborn screening, and will continue to do so until each and every country is participating in a comprehensive newborn screening program. See if your country participates in a newborn screening program on our website: https://info4pi.org/town-hall/newborn-screening.
Looking for ways to get involved? We’ve prepared a template letter so that anyone can join our efforts to promote public awareness for newborn screening for SCID. You can find the template letter on our website: https://info4pi.org/internet-cafe/vickis-voice/?slug=do-something-and-take-action. As always, we encourage our community to email us with any questions or requests for materials at firstname.lastname@example.org to join our efforts to secure newborn screening worldwide.
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.
On October 1, 2022, a new diagnosis code for APDS, D81.82, will be available.
Multiple patient advocacy groups, disease foundations, and specialty society groups, along with Pharming Group N.V, were involved in supporting the new diagnosis code. Diagnosis codes allow greater specificity for providers and payers to gather information about patients’ conditions and treatments.
The newly established diagnosis code will:
The 20th biennial meeting of the European Society for Immunodeficiencies (ESID) will take place October 12-15, 2022, in Gothenburg, Sweden. The theme of ESID 2022 is _Dysregulation and Hyperinflammation in Inborn Errors of Immunity_.
ESID 2022 will further the knowledge in the field of Primary Immunodeficiency (PID) by promoting the latest research, offering high-quality educational programs, and fostering indispensable cooperation among all those involved in the diagnosis, treatment, and management of primary immunodeficiencies.
Attend workshops and courses to sharpen your skills, showcase your latest research to your peers, and network with colleagues from around the world. Join in-person in Gothenburg, or online from wherever you are to learn more about the latest advances in the field and establish new, international collaborations.
Early registration expires on July 27, 2022. Learn more about what to expect at the meeting and register.
July 2022 – We are thrilled to share that America’s leading non-profit evaluator, Charity Navigator, has awarded the Jeffrey Modell Foundation our seventh consecutive four-star rating!
This is the highest possible rating from Charity Navigator. The four-star rating signifies that the Jeffrey Modell Foundation demonstrates strong financial health, a commitment to accountability and transparency, and adheres to sector best practices to execute our mission in a financially efficient way.
Michael Thatcher, President & CEO of Charity Navigator, shares his support and explained the significance of our seventh consecutive four-star rating, below:
“Attaining a 4-star rating verifies that the Jeffrey Modell Foundation exceeds industry standards and outperforms most charities in your area of work. Only 10% of the charities we evaluate have received at least 7 consecutive 4-star evaluations, indicating that Jeffrey Modell Foundation outperforms most other charities in America. This exceptional designation from Charity Navigator sets Jeffrey Modell Foundation apart from its peers and demonstrates to the public its trustworthiness.”
We are grateful for the opportunity to keep Doing Something with the support of our community and the encouragement of Charity Navigator!
June 2022 - Our newest published manuscript highlights how critical next generation sequencing is for PI patients. We know that NGS offers a path to hope, understanding, and ultimately relief for patients and families. However, despite the critical need for genetic sequencing, it’s all too often inaccessible to patients due to cost, insurance, access to care, and other limiting obstacles. Barriers to care result in a prolonged diagnosis journey without genetic evaluation, and sometimes, unknown diagnosis.
Join a panel of pediatric specialists from Columbia University Irving Medical Center, Weill Cornell Medicine, and New York-Presbyterian for an informational conversation on the latest advances in gene therapy on June 14, 2022 at 6:00pm EDT.
This exciting new frontier offers the expansion of treatment options for patients with genetic diseases. Novel gene therapies are in advanced stages of clinical trials for a spectrum of diseases including blood disorders such as thalassemia, sickle cell anemia, hemophilia, and immune deficiency disorders. Our expert panel of geneticists, hematologists, oncologists, and immunologists will provide an update on the status of these new therapies relevant to practicing pediatricians, subspecialists, and healthcare providers.
The conversation will be moderated by award-winning CBS medical correspondent Dr. Max Gomez. Attendees will have a chance to submit questions to the panelists.
June 9, 2022 - On behalf of XLA Life, we are very excited to announce that Dr. David Rawlings will be joining the XLA Life Fireside Chat on June 14 at 12:00pm EDT.
Dr. Rawlings is the Director at Seattle Children's Center for Immunity and Immunotherapies and the Director at Program for Cell and Gene Therapy. He is a pioneer in the gene therapy space, and we are incredibly lucky to have him working on XLA. He presented his latest updates to the NIH back in March. Now, he wants to share his work with us, the XLA community. Read Dr. Rawlings bio.
The discussion will be light on jargon and open for questions so we can all learn the complexities of gene therapy together. We hope to see you all there!
June 1, 2022. Chiesi Global Rare Diseases announced today that it’s joining with other pharmaceutical companies to support the Jeffrey Modell Foundation's initiative, "Jeffrey's Insights," a global genetic sequencing program. The initiative is designed to identify Primary Immunodeficiency (PI) gene defects to optimize disease management and treatment. The goal of the program is to provide genetic sequencing services for people around the world who are suspected of having PIs, which are genetic defects of the immune system that result in chronic and often life-threatening infections or autoimmunity.
“We are proud to support the JMF in efforts to empower physicians with NGS testing and raise awareness about the importance of genetic sequencing," said Giacomo Chiesi, head of Chiesi Global Rare Diseases.
May 23, 2022. UCLA researchers have developed a base editing approach for patients born with the rare genetic immune disorder CD3 delta severe combined immunodeficiency (CD3 delta SCID). Babies with CD3 delta SCID can’t properly form T cells that fight against bacteria and disease, leaving them vulnerable if left untreated.
Grace McAuley from the UCLA lab of Dr. Donald Kohn shared preclinical results during a presentation at the American Society of Gene & Cell Therapy’s 2022 Annual Meeting on May 17. Their study found that base editing can correct the mutation that causes CD3 delta SCID and enable the production of functional T cells. If this new therapy is successful in a phase 1 clinical trial, it may be used for a variety of other Primary Immunodeficiencies, opening new doors for treatment. This research was funded by the Jeffrey Modell Foundation.
In addition to this exciting scientific development, Dr. Kohn is also currently caring for one of our “Roots & Wings” babies, Arturo Garcia, at UCLA. Learn more about the research in Dr. Kohn’s lab and read the full story here: stemcell.ucla.edu/news/ucla-researchers-develop-base-editing-approach-rare-genetic-immune-disorder.
May 9, 2022. This new article published in the Journal of Clinical Immunology reports on 47 Brazilian patients who were investigated for SCID between 2009-2020. The diagnosis rate of SCID in Brazil improved throughout the duration of the pilot programs; however, investigators estimate that at least 80% of SCID cases in Brazil remain undiagnosed. As of May 2021, São Paulo universally implemented NBS-SCID, and investigators hope that other large cities in Brazil will follow, resulting in earlier diagnosis, and an increased survival rate of SCID patients.
Read more here: SCID and Other Inborn Errors of Immunity with Low TRECs – the Brazilian Experience.
Pharming Announces Positive Data from Phase II/III Leniolisib Trial for The Treatment of Activated PI3K Delta Syndrome
Pharming Group N.V. announces new data from the pivotal Phase II/III trial of leniolisib for the treatment of activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS), a primary immunodeficiency disease. Principal Investigator V. Koneti Rao, M.D., a staff physician at the National Institutes of Health in Bethesda, Maryland, shared the findings in a presentation at the Clinical Immunology Society (CIS) 2022 Annual Meeting.
Jeffrey Modell Foundation's New Published Manuscript now available! Growth in Diagnosis and Treatment of Primary Immunodeficiency within the Global Jeffrey Modell Centers Network.
In 2004, the Jeffrey Modell Foundation created the first-ever Public Service Advertising Campaign for Primary Immunodeficiency, to coincide with our focus on public awareness and physician education. Since then, we have blanketed the media with PSAs on TV, radio, airports, malls, billboards, street furniture, magazines, and more. The consistent messages in our Campaigns allow us to maximize our efforts to achieve earliest possible diagnosis. Our PSAs provide the chance to bring knowledge to both the members of our community and the public. We do this with a creative, uplifting approach that is both inspiring and informative.
“When I Grow Up” The “When I Grow Up” PSA Campaign speaks to the wonderment of a child's dream—a future without hospital visits, sleepless nights, and without fear. It shares the dreams of playing baseball, fighting fires, becoming a chef, becoming a glittery rock star, a determined doctor, an enchanting ballerina, and becoming a passionate teacher! These children now have a chance—a chance to thrive, to imagine, and to be lifted to their highest potential...the empowerment of a child’s dream.
Our youngest “When I Grow Up” PSA Campaign features infants and expresses the importance of Newborn Screening for Severe Combined Immune Deficiency (SCID). Often 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 they 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.
The “When I Grow Up” Newborn Screening for SCID Public Service Ads are supported in part by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under grant number UG5MC28325.