CSC researchers contribute to novel discovery of de novo and inherited variants in GBF1

STRASBURG, PA- A new study details the identification of pathogenic variants in the gene GBF1 in four unrelated families with individuals affected by Charcot-Marie-Tooth neuropathy (CMT2) or hereditary motor neuropathies (HMNs). The study includes a long-term patient of the Clinic for Special Children (CSC) and details an example of gene discovery work at CSC. The project was a broad, international collaborative effort with contributions from clinicians and researchers at CSC and appears in The American Journal of Human Genetics in September 2020.

Read the full press release HERE

Read the full paper HERE