Updates from the Director of Scientific & Clinical Initiatives
June 2025
In just a few weeks, the Dup15q Science and Family Conferences will take place in Indianapolis, Indiana! At the Science Conference, we will have some of our best scientists share their findings in a room full of their peers to brainstorm the best ways to move Dup15q basic science research forward. I will cover some of the highlights from the Science Conference in my introductory talk at the Family Conference. If you cannot attend the Family Conference, don’t worry! The talks will be recorded and shared to the website for viewing later.
-Dylan Ritter
LEARN
COMBINEDBrain Research Opportunity at the Conference
If you are coming to the Family Conference, you can directly advance Dup15q syndrome research! We have opportunities to participate in surveys, biosample collections, and natural history studies. One opportunity, in collaboration with COMBINEDBrain, aims to identify biomarkers for Dup15q syndrome in urine and blood. Biomarkers are objective indicators of disease status and progression and can help predict an individual’s response to treatment. Importantly, if we can identify biomarkers for Dup15q syndrome, pharma companies become more interested in advancing their Dup15q therapeutic programs.
From COMBINEDBrain, we know of three pharma companies that are actively interested in identifying biomarkers in Dup15q syndrome. If enough Dupers participate in the COMBINEDBrain research study and donate urine and blood, then each of these companies will gain invaluable information that will help their Dup15q therapeutic programs. Sign up for the COMBINEDBrain research study here.
TREAT
ICD-10 Code Application
ICD-10 codes are a diagnosis coding system used to help clinicians define a diagnosis in a consistent and non-subjective way. ICD-10 codes are linked to a specific diagnosis, so patients with an ICD-10 code in their medical record receive more appropriate care for their diagnosis, and insurance payers have a clearer understanding of why certain therapeutics should be readily reimbursed. There are codes for a huge number of medical diagnoses ranging from upper arm fracture to venomous snake bite to Alzheimer’s disease. The rare disease community has been largely ignored in ICD-10 coding due to small patient populations. ICD-10 codes for rare disease are critically important, as it ensures that a diagnosis is immediately recorded in a standardized and reliable way. Furthermore, it reduces headaches down the line trying to ensure medications and therapies are covered by insurance providers.
Earlier this month, I submitted an ICD-10 code application for Dup15q syndrome. A Dup15q syndrome ICD-10 code would help to standardize care across patients, identify eligible patients for clinical trials or therapeutics, and improve our understanding of symptoms experienced in our population. Additionally, it could ease difficulties with insurance reimbursement for essential treatments. We won’t know if we advanced to the next stage of the process for a few more months, but our hope is that an ICD-10 code for Dup15q syndrome will serve to improve patient outcomes and family support following a Dup15q diagnosis.
CURE
UBE3A Function
UBE3A is the protein believed to drive most Dup15q syndrome symptoms. UBE3A functions within the cellular recycling pathway by marking old, broken, or unnecessary proteins for degradation. The resulting building blocks can be used to build brand new, functional proteins! UBE3A levels are critical to maintain, as too much UBE3A could lead to the unintended breakdown of proteins the cell doesn’t want to degrade. Restoring normal UBE3A protein amounts serves as a promising therapeutic target for Dup15q syndrome.
Angelman syndrome is a disorder related to Dup15q syndrome. Angelman syndrome is caused by loss of function in UBE3A, whereas Dup15q syndrome is caused in part by excess UBE3A. Angelman syndrome has had great therapeutic success in using antisense oligonucleotides (ASOs) to increase UBE3A towards normal levels. If we can use ASOs to decrease UBE3A towards normal levels in Dup15q syndrome, there is a high likelihood that many symptoms could be improved beyond what current medications can improve.
INSYNC-AS
Earlier this month, I attended a meeting organized by the Foundation for Angelman Syndrome Therapeutics (FAST) that focused on streamlining therapeutic development in rare disease. While there, I connected with pharmaceutical company representatives, rare disease advocates, and clinicians to better understand how we can optimize the path towards therapeutics. I learned better practices for engaging with pharma companies that can hopefully improve the breadth of medical technologies that could one day be available for Dup15q syndrome. We’re already on the right track, and our team is working hard to make the Alliance’s scientific mission even more successful!
