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Meet the NIH Detectives Cracking Medicine's Toughest Cases

Potentially Protective Agent Shows Benefit in Niemann-Pick Type C

Better neurologic symptoms after treatment with N-acetyl-L-leucine

Baylor scientists link MRTFB gene variants with novel neurodevelopmental disorder

Researchers at Baylor College of Medicine have linked specific variants or mutations of the gene myocardin-related transcription factor B (MRTFB) with a novel neurodevelopmental disorder.

Rare disease, fatal diagnosis doesn't stop woman from bucket list life

Jessie Jackson won t benefit from a new treatment, but the North Carolina woman s participation in a study on her rare condition will help others.

Sio Gene Therapies reports positive interim data for gene therapy trial

Sio Gene Therapies, a clinical-stage company focused on developing gene therapies for neurodegenerative diseases, presented positive interim data from its Phase I/II study of AXO-AAV-GM1, an adeno-associated viral vector-based gene therapy candidate for GM1 gangliosidosis that was licensed from UMass Chan.