Publications and Press
Human Molecular Genetics
Ngly1 rats develop neurodegenerative phenotypes and pathological abnormalities
This Father Founded A Medical Research Startup To Save His Kid’s Life
New York Times
‘It Will Consume Your Life’: 4 Families Take On Rare Diseases
Methods & Clinical Development
Gene therapy rescues disease phenotypes in NGLY1 rats.
Orphanet Journal of Rare Diseases
The calculated U.S. incidence of NGLY1 Deficiency is ~ 12 individuals born per year.
Characterized and demonstrated the power of the NGLY1 Deficiency biomarker, GNA.
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