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Archives for: August 28th, 2017

NORD Publishes New Report on Sitosterolemia

Written by Christina Jensen on August 28, 2017

Washington, D.C., August 28, 2017—As part of its ongoing series to promote awareness and education regarding rare diseases, the National Organization for Rare Disorders (NORD) has published a report on Sitosterolemia. This new resource is… Read More

Largest-Ever Study of SYNGAP1 (MRD5), Linked to Autism, was Launched

Written by Jennifer Huron on December 23, 2016

Research study is open to participants worldwide to advance understanding and treatments for rare disease causing non-syndromic intellectual disability ranging from mild to severe with attention deficits, impulsivity, and/or mood disorders. Seventy to eighty percent of children with SYNGAP1 also have some type of epilepsy and the SYNGAP1 gene has… Read More