Positive Data Reported in a Multinational Clinical Trial Investigating New Treatment of Niemann-Pick disease Type C

A multinational clinical trial of for the treatment of Niemann-Pick disease Type C (NPC) demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both primary and topline secondary endpoints for both pediatric and adult patients with NPC.

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Pulmonary Fibrosis Awareness Month Highlights Realities of Rare Disease

September’s Pulmonary Fibrosis Awareness Month shares crucial realities and insights about the rare disease, its symptoms and helpful resources provided by the Pulmonary Fibrosis Foundation to educate the public about this devastating disease which impacts over 200,000 Americans.

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New Collection of Rett Syndrome Stem Cells Available from Coriell Institute for Medical Research

The Coriell Institute for Medical Research has added a new collection of stem cells to its biobank offerings. The new collection is a result of a collaboration between Coriell and the Rett Syndrome Research Trust (RSRT) and consists of 10 lines of human induced pluripotent stem cells created from blood donated by individuals with Rett syndrome.

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Unexpected Mental Illnesses Found in a Spectrum of a Rare Genetic Disorder

UC Davis MIND Institute researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a “double hit” condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders.

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Coriell Institute Awarded $9.2M Biobanking Grant from National Institute of General Medical Sciences

The Coriell Institute for Medical Research has been awarded a $9.2 million grant through an open competition from the National Institute of General Medical Sciences (NIGMS). This five-year award keeps Coriell in place as the steward of the NIGMS Human Genetic Cell Repository, a world-renowned collection of high quality cell lines and DNA samples representing genetic diseases, distinct human populations around the world, and more.

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