Thanks to the successful fundraising activities of our community over the past two years, the Society is able to award a one-time research grant of US$50,000.00 to support research into Xia-Gibbs Syndrome (‘XGS’).
Congratulations to He Li of Baylor College of Medicine (BCM) who will receive funding for his study entitled “Development of a powerful patient registry enabling understanding of the pathophysiology of Xia-Gibbs Syndrome”
To better promote and support patient-focused research, the project aims to (1) expand the XGS Registry by recruiting and consenting additional 100 individuals with XGS, (2) upgrade the XGS Registry into a data science ecosystem that facilitates collaborative research, (3) generate a comprehensive profile of XGS clinical features, (4) determine all causative genetic factors in XGS (beyond AHDC1) to guide clinical diagnosis and treatment decisions, and (5) empower researchers, clinicians, and industry leaders around the world to bring their expertise towards understanding XGS.
The current XGS Registry has the largest collection of information on individuals with XGS in the world. We believe further investment into the XGS Registry will significantly increase awareness of XGS among rare disease researchers and the broader scientific community, families with rare diseases, and the general public. Data collected through this project will boost research around the world to understand the full clinical and genetic spectrum of XGS, drive discoveries of disease mechanisms, and promote effective therapeutic strategies for XGS.
We look forward to working with Dr. Li and BCM through the grant period and value the opportunity to partner with them to advance research into XGS!