DADA2 on the World Stage: A Month of Progress and Pride

DADA2 on the World Stage - A Month of Progress and Pride

 

A Moment of Reflection and Celebration

 

Chip Chambers

Dear DADA2 Community:

April has given me a chance to reflect on the growth of what I often call my youngest “child”—the DADA2 Foundation. Like any parent watching their children come into their own, there comes a time when you realize they no longer need constant guidance; they begin to find their own path, form new connections, and make an impact beyond your immediate reach.

That’s exactly how I felt while reviewing all the DADA2-related content presented at this month’s ISSAID conference in Paris.

When I started the Foundation, my goal was to harness the energy and enthusiasm of the pioneering DADA2 researchers—to spark interest, build community, and accelerate our collective understanding of this rare disease. Nine years later, I am both proud and amazed by how far we’ve come.

The presence of DADA2 at ISSAID was more than impressive—it was inspiring. It showed the depth of our progress and the strength of this community. What excites me even more is seeing so many doctoral students and postdocs working under the guidance of experienced DADA2 investigators. These rising scientists represent the next generation of discovery, and they are carrying our shared mission forward.

Together, we are building something that has the power to change lives. And together, I believe we will achieve our ultimate goal: a cure for DADA2.

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Chip Chambers, M.D.

Founder & President, DADA2 Foundation


conveneDADA2 Takes the Spotlight at ISSAID 2025

The International Society of Systemic Auto Inflammatory Diseases (ISSAID) hosted its annual conference this month in Paris, drawing over 450 participants from around the globe. The DADA2 Foundation is a proud sponsor of the conference—but it was our research community that truly stole the show.

Over the course of the three-day event, 17 DADA2-focused abstracts and posters were presented, showcasing the latest advances in understanding and treating this rare disease. Here are just two examples:

Marco Gattorno from Istituto G. Gaslini presented an update on the treatment of monogenic vasculitides including DADA2Marco Gattorno, from Istituto G. Gaslini, presented an update on the treatment of monogenic vasculitides, including DADA2. “It was a very good meeting, and we talked a lot about DADA2!” shared Dr. Gattorno.

In fact, we’re thrilled to report that DADA2 was the third most-discussed topic at the entire conference—a remarkable feat for a condition with just 600+ known patients worldwide.

 

Alessandra Mortellaro from San Raffaele Telethon for Gene TherapyAlessandra Mortellaro from San Raffaele Telethon for Gene Therapy (SR-Tiget) shared:

Big shoutout to Dimitri Bulté, our brilliant postdoc, who presented his unpublished data on a new inflammatory mechanism involved in the pathophysiology of deficiency adenosine deaminase 2 at the 2025 International Society of Systemic Auto-Inflammatory Disease (ISSAID) conference, held in Paris last week. He absolutely nailed it – the work was very well received, sparking great interest and lively discussion. Exciting things ahead!!

Want to dive deeper into the DADA2 presentations? Click the button below to download a pdf of all DADA2 related abstracts and poster summaries.


Help Us Build a Global ADA2 Testing Resource

Have you ever ordered an ADA2 enzyme level test for a patient? If so, we want to hear from you!

As awareness of DADA2 continues to grow, the Foundation is receiving an increasing number of inquiries from physicians searching for reliable laboratories that can perform ADA2 testing. To support the medical community, we’re compiling a global directory of ADA2 testing sites.

If you know of a lab offering ADA2 testing, please click below to send us an email with the following details:

  • Lab/Institution Name
  • City and Country
  • Contact Person
  • Email Address
  • Phone Number (if available)

Your input will help connect more patients to timely diagnosis and care. Thank you for being part of this important effort!


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Global Newborn Screening: A Vision for DADA2

 

Newborn screening is a critical tool that can detect rare diseases early and change the course of a child’s life. However, newborn screening programs vary widely from country to country. Some nations screen for only a handful of conditions, while others have more comprehensive panels.

 

At the DADA2 Foundation, a long-term goal is clear: we hope to see DADA2 included in newborn screening panels around the world. Early diagnosis is key to preventing the irreversible damage that DADA2 can cause. As we continue to improve screening methods and deepen our understanding of the benefits of early intervention, we believe DADA2 will meet the criteria for inclusion in national and international newborn screening programs.

 

In the United States, however, recent developments have created challenges. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), which played a vital role in updating the U.S. Recommended Uniform Screening Panel (RUSP), was unexpectedly terminated. Without this committee, progress toward expanding newborn screening is at risk.

 

We encourage U.S.-based families to contact their congressional representatives to share how important it is to reinstate this committee.

 

If you are outside the U.S. and would like help working with your country’s newborn screening program, please contact the DADA2 Foundation — we are here to support you.

 

Thank you for being a part of this important work — together, we can shape a future where every child gets the best possible start.

 

 


cureFeatured Published Articles on DADA2

 

 

A Clinical Case Report of Deficiency of Adenosine Deaminase 2 Syndrome (DADA2) Presenting as a Brachial Artery Aneurysm

Shama Sowdagar et al, Mediterranean Journal of Rheumatology, 1 March 2025

 

Deficiency of Adenosine Deaminase 2 Masquerading as Behçet’s Disease: Phenotypic Mimicry with HLA-B*51 Positivity

Abdullah Almojali et al, Journal of Clinical Immunology, 17 March, 2025

 

Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric study

Sathish Kumar et al, Rheumatology, April, 2025

 

Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities

Dimitri Bulté et all, Journal of Allergy and Clinical Immunology, February 2025

 


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