Updates from the Director of Scientific & Clinical Initiatives
December 2025
Happy New Year! As we move into 2026, my hope is that our community will become more informed of the important science happening in the world of Dup15q syndrome and beyond. Sadly, I currently find myself writing to clarify another dangerous block to scientific progress in America. On November 19th, the CDC webpage on Autism and Vaccines has changed to say that the claim “vaccines do not cause autism” is not evidence-based. This is in direct contradiction to hundreds of scientifically rigorous peer-reviewed studies that clearly state that vaccines do not cause autism.
Thankfully, our community understands that autism in Dup15q syndrome comes from extra genetic material, not a vaccine. However, the dangers that scientific misinformation cause in the wider community are dangerous to everybody in society, as seen in the case of the continued measles outbreaks. As the weather gets colder and people are forced to spend more time inside, please consider making safe decisions to protect your loved ones from serious illness!
-Dylan Ritter
LEARN
American Epilepsy Society Annual Meeting
Earlier this month, Science Committee Co-Chair, Jackie Vanderhoof, and I attended the American Epilepsy Society’s Annual Meeting in Atlanta, GA. While there, we heard from clinicians who spoke about the urgent need to address sudden unexpected death in epilepsy (SUDEP), a very real risk for anybody diagnosed with epilepsy. There were also research presentations on cutting-edge scientific progress in other disorders that we hope to implement in our own Dup15q research goals. And lastly, we had conversations with pharmaceutical companies to better improve clinical trial design for individuals with epilepsy.
In line with developing a research roadmap for the Dup15q Alliance’s scientific goals, I designed a poster to share at AES. Check out that poster here to see a big picture idea of some of the key science focuses of the Alliance!
TREAT
Citizen Health
As pharmaceutical companies move towards clinical trials, an accurate registry of families with a Dup15q syndrome diagnosis is essential. Having a collection of data with clinical records for each diagnosed individual is even more valuable. When I started in this position last year, I tried to initiate a big push for families to register with Citizen Health. In 2026, I want to renew the same goal!
Citizen Health is a platform that allows researchers to understand how Dup15q symptoms look across many different people. As a family member who registers with Citizen Health, you can easily see your loved one’s medical records in one convenient place. New features include using AI to ask questions about your loved one’s medical history and being notified of clinical trials that your Duper may be eligible for. An added benefit is that your 10-minute sign up will contribute valuable information to shape future Dup15q clinical trials.
By participating in Citizen Health, you have the option to share data with researchers if they request it. All requests are verified to ensure proper data safety. Additionally, data shared with researchers is de-identified and unable to be connected back to you in any way, so you can remain confident that any information will be anonymized and used to safely advance Dup15q syndrome therapeutics. I have personally accessed some data, and I can confirm there is no identifiable information shared.
The data collected in Citizen Health’s database are essential for upcoming clinical trials, and high family registration makes Dup15q syndrome a more appealing clinical trial candidate. Enrollment takes less than 10 minutes. If you want to learn more, watch my interview with Kate Haldeman from the 2025 Big Give. I am a huge fan of what Citizen Health has been doing, so feel free to reach out to me personally if you have any questions!
CURE
What could reducing UBE3A do?
As our two biotech partners (Quiver and Kicho) continue to advance their therapeutic Dup15q ASO programs towards clinical trials, I have received many questions from families regarding what an ASO could do for their child’s symptoms. While it is still too early to know what a UBE3A-lowering ASO could do in a person, we do have some evidence from animal models that could give us some hints.
Different mouse models that overexpress UBE3A show anxiety-like behaviors, learning impairments, reduced seizure thresholds, and increased risk of SUDEP. Similarly, fly models overexpressing UBE3A demonstrate reduced seizure threshold. It’s not perfectly clear what Dup15q syndrome symptoms are caused by UBE3A, but it is very likely that UBE3A plays a role across many symptoms, as observed in the different animal models overexpressing UBE3A. The hope is that an ASO therapeutic that reduces UBE3A could improve many symptoms as well!
ICD-10 Code Update
If you recall from my June SCI Spotlight, I mentioned that I had applied on behalf of the Dup15q Alliance for a Dup15q syndrome ICD-10 code. ICD-10 codes are clinical tools used to improve insurance coverage and clinical care while enhance our understanding of Dup15q clinically. While families may not see immediate changes to clinical care if Dup15q syndrome receives an ICD-10 code, the future benefits to clinical research, insurance payer headaches, and patient care will be great.
Our first ICD-10 code application was not considered in the September 2025 meeting due to the slashing of federal health programs. This month, we applied again in anticipation of the March 2026 meeting (meetings are held twice per year, so March is the next one). We expect to hear back soon if we have advanced to the next stage of the application process, so keep your fingers crossed!
