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…
Stress and interferon signaling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1 (read more) Background Although NGLY1 is known as a pivotal enzyme that catalyses the deglycosylation of...
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Check out this powerful video about how our first NGLY1 Deficiency patient was found, and the incredible Might family (founders of NGLY1.org) who work tirelessly to help others affected by NGLY1…
Written by Marc's dad, Jordi. Marc was born with low weight and stayed in the NICU for three weeks. When he was three month old, during a routine visit to...
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Reprinted from the BLOOM BLOOM is talking to parents to learn about what they do to care for their mental health. First up is Laura Meffen. Laura’s daughter Emily Kerr,...
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Can you share a bit of your background? I was born and grew up in the Bay Area and then continued my education in Southern California. I knew science what...
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