• NGLY1 in The New Yorker!

    Open science and social media were key in the discovery and growth of the NGLY1 rare disease community. Article by Seth Mnookin.

  • NGLY1 Deficiency Research

    In June 2012, the Freeze Lab pioneered research into the clinical treatment of the rare disorder, N-glycanase deficiency.

  • NGLY1 Families Connect

    On February 28, 2014, researchers and 5 NGLY1 families from across the world met for the first ever symposium on N-glycanase deficiency.

Monday, February 2, 2015

President Obama congratulates the NGLY1 community

Monday, February 2, 2015   3 comments
NGLY1 parent and University of Utah Professor Matt Might was invited to White House for the announcement on the President's Precision Medicine Initiative on Friday, January 30th: (function(d, s, id) { var js, fjs = d.getElementsByTagName(s)[0]; if (d.getElementById(id)) return; js = d.createElement(s);...

Saturday, January 31, 2015

Eric Topol's "The Patient Will See You Now" cites NGLY1

Saturday, January 31, 2015   No comments
Eric Topol's new book, The Patient Will See You Now, is an excellent read on the future of medicine and the era of engaged patients. The NGLY1 community has since its inception been a model of how it's possible to push the science forward with engaged patients and technology. It is a great...

Saturday, January 24, 2015

2015 Running for Rare Diseases

Saturday, January 24, 2015   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 Team to support the Undiagnosed Diseases Network. NGLY1.org is proud to partner with the 2015 Running for Rare Diseases...

Monday, November 24, 2014

Rare Is Not an Excuse

Monday, November 24, 2014   No comments
The Grace Wilsey Foundation has put together a fantastic video! Rare is not an excuse: Please shar...

Sunday, November 9, 2014

2nd World Conference on Congenital Disorders of Glycosylation for Families and Professionals

Sunday, November 9, 2014   No comments
Lyon, FRANCE August 29 - 30, 2015 The CDG Community is planning “The 2nd World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a challenging story of sugar trees”, early in advance. Due to relevant operational reasons, getting a detailed tentative agenda is of...

Saturday, November 8, 2014

NGLY1 Deficiency Video

Saturday, November 8, 2014   No comments
The Grace Wilsey Foundation has created an informational video to answer the question: "What is NGLY1 Deficiency?" Please share with all those whom might be interested: ...

Saturday, October 25, 2014

Dr. David Goldstein to direct Institute for Genomic Medicine at Columbia University

Saturday, October 25, 2014   1 comment
NEW YORK (September 23, 2014) — David Goldstein, PhD, will join Columbia University as professor of genetics and development in the College of Physicians and Surgeons and director of a new Institute for Genomic Medicine in partnership with NewYork-Presbyterian, effective January 1, 2015. Dr. Goldstein...