Rare Disease Foundation Announces First Global Registry

SAN FRANCISCO, Aug. 29, 2018 /PRNewswire/ -- Today the Grace Science Foundation ("GSF") announced the creation of the world's first and only NGLY1 Deficiency registry, which provides invaluable resources to the medical community racing to find a cure for this rare genetic disorder. So far, the registry contains a treasure trove of data on 36 patients' genomes, symptoms, medical and treatment history, furthering the collaborative efforts GSF founders Kristen and Matt Wilsey have put at the forefront of GSF's initiatives.

"The registry enables clinicians to identify successful interventions in other patients and provides data to researchers looking for clues to support new hypotheses," noted Kristen Wilsey. "This will help accelerate the development of therapies for NGLY1 patients who experience debilitating symptoms."

NGLY1 Deficiency is a genetic disorder that affects many body systems, causing seizures, delayed development, movement abnormalities, liver dysfunction, eye abnormalities, and a reduction or absence of tears. The disorder is rare, with only 49 known living patients, making collaboration amongst researchers in varying parts of the world critical in order to hasten progress toward a treatment. The NGLY1 Deficiency registry streamlines data so researchers everywhere can make informed decisions based on real-time feedback and information. "Knowing patient history, disease progression, and current health status is essential," says Dr. Carolyn Bertozzi at Stanford University. "We have used the registry several times and it's been incredibly valuable. Without question the data have accelerated our understanding and will help the team develop therapies that are more effective."

This groundbreaking platform is part of GSF's pioneering approach modeled after the Silicon Valley startup model, explained Matt Wilsey, "In the face of limited funds and a short timeline, we're bringing together top talent and dropping them in a fast-paced, collaborative environment that is highly iterative."

The Grace Science Foundation is a not-for-profit organization, whose mission is to cure NGLY1 Deficiency by pioneering approaches to scientific discovery that are faster, less expensive and more collaborative. For more information, visit the Grace Science Foundation registry page.

SOURCE Grace Science Foundation