50k for Conference Replay
Join us for a Facebook LIVE event on September 24th as we aim to raise $50k for research. We will replay some of our favorite sessions from the 2021 Family Conference and release all of the sessions to the public!
You do not need a Facebook account to watch! Just visit www.facebook.com/Dup15qAlliance/.
We are committed to investing $250,000 to further research in Dup15q Syndrome.
Dup15q Alliance is supporting and funding new clinical research into treating specific symptoms that affect individuals with Dup15q Syndrome, such as:
- – understanding metabolomics and the way bodies process medications and why some may not work after a certain time
- – how to better understand and treat gastrointestinal problems
- – establishing a Dup15q Syndrome specific Growth Curve
- – newborn screening for dup15q mutations
- – brain function in dup15q syndrome
- – seizure medication intervention efficacy
- – identifying sleep issues
*The above list is not inclusive of all research areas of interest.
Dup15q Alliance is committed to investing into research that will guide targeted treatments for our families. Additional research is needed to understand the genetic mechanisms that cause the symptoms of Dup15q Syndrome. UBE3A has been identified as a gene of interest, but with 20-30 genes in the affected area, it remains unknown which specific genes or interactions between genes are the best targets for treatment.
Examples of research that we have previously supported:
- – Dr. Ben Philot: Exploration of critical periods for UBE3A overexpression in Dup15q Syndrome and ASD
- – Dr. Gilles Trave: Created the first 3D structure of full-length UBE3A with and without HERC2
- to determine how the other proteins within Dup15q interact
- – Dr. Vidya Saravanapandian: Evaluating A Scalable EEG Biomarker In Dup15q Syndrome