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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Mitali Tambe, Ph.D., from the Hudson Freeze Lab at Sanford Burnham Prebys Research Institute presented on NGLY1 for the ASBMB’s Art of Science Communication.
Clinicians, researchers and advocates for diseases rare and common met at the White House for a day of science and bowling on Friday, December 16th in honor of NGLY1 patient...
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A diagnosis is the first step toward a cure. Bertrand, Victoria and Winston Might are proud to partner with Pam Lynch from Genzyme on the 2015 Running for Rare Diseases…
Journalist Seth Mnookin dedicated over two years to research and chronicle the discovery of N-glycanase deficiency and the growth of the NGLY1 community. It is an honor to have an…
Bertrand with NIH study coordinators, Lynne Wolfe and Christina Lam. In June 2014, the National Institutes of Health saw the first NGLY1 patient as part of it’s CDG Protocol.vThis study…
The Might family was recently featured in the summer issue of Sanford-Burnham Medical Research Institute’s “Portal”. It’s a lovely feature on pioneering N-glycanase deficiency research through Dr. Hudson Freeze’s laboratory…
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