Thanks to the fundraising activities of our community, 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 Jianhong Hu, Ph.D of Baylor College of Medicine (BCM) who will receive funding for her continuing study entitled “Development of a powerful patient registry enabling understanding of the pathophysiology of Xia-Gibbs Syndrome”

The study was commenced with the support of our first research grant in 2020. During the initial grant period, BCM grew the Registry to an aggregate of 305 registered families, with more than 100 providing the full complement of requested records. We believe this makes the XGS Registry one of the largest of comparable resources. BCM also worked to make the XGS Registry more accessible to participants. Through modifications to the current interface, it is now possible for participants to create an XGS Registry account. This allows them to log in and partially complete their data entry and save the intermediate entries. Later, they can log in again and resume their work. This straightforward upgrade was implemented in September and has made it much easier for participants to enter and update their information.

In the coming grant period BCM aims to continue to grow the Registry and to pursue the goal of developing the infrastructure needed to transfer the Registry functionality to an administrator independent of BCM, under the ownership and control of the XGS community. The longer term goal is to structure the Registry so that is has a new interface for the administrative-facing elements, as well as for the participant population. Overall, this is an ambitious goal that has three parts: the overall design; implementation of the administrative interface; and implementation of the participant facing elements.

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 at Xia-Gibbs Society look forward to working with Dr. Hu and BCM through the grant period and value the opportunity to partner with them to advance research into XGS!

For more information about the XGS Registry, please click here and submit an inquiry through our form.