Rare Disease Foundation Announces First Global Registry for NGLY1 Deficiency

August 30, 2018

Rare Daily Staff

The Grace Science Foundation, a non-profit working to cure the ultra-rare disorder NGLY1 deficiency, said it has created the world’s first and only NGLY1 deficiency registry.

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. There are 49 known living patients with NGLY1 deficiency.

“The registry enables clinicians to identify successful interventions in other patients and provides data to researchers looking for clues to support new hypotheses,” said Kristen Wilsey, co-founder of Grace Science. “This will help accelerate the development of therapies for NGLY1 patients who experience debilitating symptoms.”

The foundation said the registry will be an invaluable resource to the medical community seeking to find a cure for the rare genetic disorder. So far, the registry contains data on 36 patients’ genomes, symptoms, medical and treatment history.

The registry is designed to streamline 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,” said Carolyn Bertozzi, a professor 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.”

August 30, 2018
Photo: NGLY1 families from four countries enroll in the NGLY1 Registry in Palo Alto, California.


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