
Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency—a rare disorder first described in 2012—lack sufficient water channel proteins called aquaporins. The...
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NGLY1.org is thrilled to be actively involved in this important research! Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations…
BIOLOGY OF RARE AND NEGLECTED DISEASES NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES, BETHESDA, MD AND SURROUNDING AREA Position Description: The biology group in the Therapeutics for Rare and Neglected Disease…
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