US Congress hears about NGLY1

On Tuesday, July 22, 2014, at 3:00 p.m. in 2322 Rayburn House Office Building, the Subcommittee on Health held a hearing entitled “21st Century Cures: Examining Barriers to Ongoing Evidence Development and Communication.” This hearing focused on issues surrounding continued evidence development...

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Boston Public Radio covers NGLY1

Boston Public Radio 07/21/2014 The segment on NGLY1 starts at 1:36:39. Seth Mnookin, a professor in the MIT graduate program in science writing, talked about his new piece in The New Yorker titled "One of a kind: What do you do if your child has a condition that is new to scien...

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Benefit for Jordan & Jessie

The following is a fundraiser to improve the quality of life for one of our beautiful NGLY1 families by helping them purchase a handicap accessible van capable of transporting both of their daughters. If anyone is interested in simply donating directly to this family, please let us know.  Thank...

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"Integrating Glycoscience"

This upcoming November 2014 at the annual joint meeting for the Society of Glycobiology and the Japanese Society for Carbohydrate Research, there will be an entire session dedicated to NGLY1! The theme for the conference is "Integrating Glycoscience From Biology and Chemistry to Medicine". NGLY1...

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NGLY1.org Facebook Launch

In 2012, we launched NGLY1.org as a resource to clinicians, a means of finding new N-glycanase  (NGLY1) deficiency patients, and a way to support their families. Yesterday, thanks to the rapidly growing NGLY1 community, we launched the NGLY1.org page on Facebook to...

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NGLY1 in "The New Yorker"

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 ultra-rare disease brought to public attention with such compelling and thorough reporting. On behalf of all NGLY1...

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What is a "Natural History of Disease"?

The NIH Campus in Bethesda, Maryland, USA. The National Institutes of Health (NIH) is currently enrolling N-glycanase (NGLY1) deficiency patients into a study of the natural history of the disease. The natural history of disease refers to a description of the uninterrupted progression of a...

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NIH NGLY1 Study Experience

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.  This study is a valuable instrument for understanding N-glycanase deficiency, and developing a natural history of the...

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NIH names new clinical sites in Undiagnosed Diseases Network

David Goldstein and Vandana Shashi, who headed up the team at Duke that discovered N-glycanase deficiency, will also be heading up one of the sites for the Undiagnosed Diseases Network (UDN).  The UDN is a large step forward for undiagnosed patients everywhere.  We are hopeful...

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