AUGUST / SEPTEMBER 2024 – Zebrafish, Lemonade and You
Dear DADA2 Community:
The heat of Nashville’s summer has given way to the cooler temperatures of fall. Fall is always a time for me to reflect on where we have been and start thinking about where we are going. When I started the Foundation, it was with one goal in mind: to find a cure. The Foundation has successfully built an engaged network of patients, families, physicians and researchers, pushing our understanding of the disease forward in leaps and bounds. What do we need now? To be blunt, money. We will need to raise money – big and small amounts – to reach our goal.
Lex Cowsert, DADA2 Chief Scientific Officer, and I have spent much of this year working on funding opportunities: Some efforts are still in the works. Some have been successful. Those that haven’t succeeded are great learning experiences – we know how to better structure a grant or pitch our ideas.
This leads me to our latest newsletter where we pause to consider how a lemonade stand, the humble zebrafish, and you are related. As odd as that may sound, bear with me as I explain….
Why the zebrafish? You will learn about exciting new research from two Italian researchers, Alessandra Mortellaro and Anna Pistocchi, using zebrafish to better understand the impact of ADA2 on cells. Watch the video below and find out how closely the zebrafish genetics mirror human genetics.
Why lemonade? We learn from Mary Wagner, a DADA2 grandmother, about how she started her journey into fundraising for a cure with just a simple lemonade stand.
And you? The Foundation exists for you. But we need your help – to fund researchers like Alessandra and Anna so we can find better treatments and a cure. Can you find a way to help us get there faster?
Cheers,
Chip Chambers, M.D.
Founder & President, DADA2 Foundation
Baby Steps to Fundraising
Fundraising can be a daunting task for most people but Mary Wagner, DADA2 grandmother and passionate advocate for finding a cure, wants the DADA2 community to know that anyone can do it!
Mary just hosted her fifth and most successful fundraising golf event in July, raising $17,000, but she knew very little when she started. How did she go from newbie to expert? By starting small! Watch the video to learn more.
Whether hosting a bake sale at school, a lemonade stand in your neighborhood or a gala event, Mary and the DADA2 Foundation can help you plan and execute your event. No event is too small, and every dollar raised helps the Foundation’s mission of finding a cure and improving treatments for all DADA2 patients.
Zebrafish are (almost) just like you!
While researchers have learned a lot about DADA2 in just 10 years, the lack of an animal model has always been an obstacle to fully understanding how ADA2 works in the body. An animal model would allow researchers to test theories on how ADA2 affects cells and cell development as well as to test possible treatments. Since rodents (the usual animal model) do not have the ADA2 gene, researchers Alessandra Mortellaro (San Raffaele Telethon Institute for Gene Therapy) and Anna Pistocchi (Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano) turned to the humble zebrafish.
It turns out the zebrafish shares about 70% of the same genes as humans, including ADA2. Their recently published research explores the effect of removing ADA2 in zebrafish. They found that DADA2 zebrafish had less neutrophils and a significant increase in TNF and pro-inflammatory cytokines along with a significant reduction in hematopoietic stem cells. They also tested a potential enzyme replacement therapy and found that the DADA2 zebrafish showed improvement in hematopoietic stem cell counts, which then boosted neutrophil counts.
These exciting findings provide hope for an effective enzyme replacement therapy and will help researchers further explore the impact of ADA2 deficiency.
Read the study linked below, or watch the video linked above of Dr. Mortellaro explaining this important research. If you have trouble viewing, copy and paste the URL https://youtu.be/o7foLHrzxWo into your browser.
Changing the Culture of Medical Research
In August, Dr. Chambers presented at the Patient Engagement Workshop held in Oslo, Norway and hosted by the Centre for Molecular Medicine Norway (NCMM), the NCMM Trainee Committee, and EATRIS – the European Research Infrastructure of Translational Medicine. The workshop aimed to raise awareness among research scientists on the importance of involving patients early in the research process.
Dr. Chambers was one of three presenters representing international patient advocacy organizations. He spoke about his efforts to connect patients, physicians, and researchers to advance the understanding and improve treatments of DADA2. Conferences like this are critical in changing the culture of medical research to improve outcomes for patients, especially rare disease patients!
If you would like Dr. Chambers to speak at your conference, or if you have presented on DADA2, we’d love to hear from you! Please email the Foundation at info@dada2.org or click the link below:
Latest Published Articles on DADA2
ADA2 Regulates Inflammation and Hematopoietic Stem Cell Emergence via the A2bR Pathway in Zebrafish
Brix, A., Belleri, L., Pezzotta, A. et al. Commun Biol 7, 615 (2024).
Karimzade, P., Eghbali, A. et al. Case Reports in Immunology, Volume 2024, Article ID 4380689.
Bulté, Dimitri et al. Journal of Allergy and Clinical Immunology (2024)
Kumar, Sathish, et al. Rheumatology (2024): keae489.
Kose, Hulya, and S. A. R. A. KILIÇ GÜLTEKİN. GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS 22.2 (2024).
Al-Ghoul, Majd, et al. Annals of Medicine and Surgery: 10-1097.
Deficiency of Adenosine Deaminase 2.
Coşkun, Çağrı, and Şule Ünal. Turkish journal of haematology: official journal of Turkish Society of Haematology (2024).
Advances in gene therapy for inborn errors of immunity
Zhongguo Dang dai er ke za zhi= Chinese Journal of Contemporary Pediatrics 26.8 (2024): 865-870.
Demirci, Turna – polen.itu.edu.tr
DADA2 Out & About!
In late August, Andy Grundstad and Mary Haugland got together to watch Andy’s father compete in a team steer roping event in Crosby, North Dakota.
Mary was one of Andy’s nurses when he was quite young and has become a close family friend. One of the positives of living with rare disease are the incredible people you meet along the way!
Send us your photo wearing DADA2 gear out & about!
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Every dollar you donate help us find more physicians who can diagnose DADA2, ending the diagnostic journey of a patient and starting their journey to health!