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Blog

Jan 17
1

Why can’t Bertrand Might cry? Scientists offer an answer: missing water channels

By admin | Research and Science | No Comments
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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Apr 05
0

Mitali Tambe, Ph.D. – On a RARE Journey to Therapy

By NGLY1.org | Researchers and Clinicians | No Comments

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.

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Dec 17
0

Scientific meeting at the White House bowling alley

By NGLY1.org | Events, NGLY1 Champions, Research and Science | No Comments
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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Jan 24
0

2015 Running for Rare Diseases

By admin | NGLY1 Families, Partners | No Comments

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…

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Jul 16
0

NGLY1 in “The New Yorker”

By admin | Media, NGLY1 Families | No Comments

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…

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Jul 14
0

NIH NGLY1 Study Experience

By admin | CDG, NGLY1 Deficiency, Research and Science | No Comments

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…

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Jun 29
0

Parental Might

By admin | NGLY1 Families, Research and Science | No Comments

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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Recent Posts

  • Why can’t Bertrand Might cry? Scientists offer an answer: missing water channels
  • NGLY1.org Research update: Generation of an induced pluripotent stem cell line …
  • Research Update: Suggestion that targeting NGLY1 represents a novel anti-melanoma strategy
  • Superhuman Video: The Might Family
  • NGLY1 Family Story – Marc F

Recent Comments

  • Lili Torres on NGLY1 Family Story – Marc F
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  • Emile najm on NGLY1: Data as a Drug Presentation at NIH/NCATS
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