The NGLY1 Foundation (NGLY1.org) is pleased to announce the appointment of Matthew Fox to its Board of Directors. “Matt Fox brings years of experience in finance, biotech, drug development and...
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Written by Willow's mom, Anna. We noticed Willows development was delayed at three month old. We were told to prepare for at minimum three years of testing, and that we...
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Download our "About NGLY1 Deficiency" handbook today at https://www.ngly1.org/handbook. This comprehensive booklet includes information on: * Symptoms * Diagnosis * Prognosis * Medical Patient Care * Therapies ... and...
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For Rare Disease Day 2018, Cristina Might, president of NGLY1.org, presented at the University of Alabama Birmingham about how the challenges with coordinated care are particularly magnified in cases of...
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New information on NGLY1 Deficiency has been published on the National Center for Biotechnology Information's GeneReviews website. It contains information on the following topics: Diagnosis Clinical Characteristics Genetically Related (Allelic) Disorders...
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The Coriell Institute for Medical Research is proud to announce the release of new samples representing N-glycanase deficiency, caused by a mutation on the NGLY 1 gene, also known as...
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Cristina Might, President of NGLY1.org, spoke on Capitol Hill this week at the Rare Disease Congressional Congress Briefing. Her presentation focused on genetic testing and sequencing for rare diseases. The Congressional Rare Disease...
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