COMMAD is a syndrome which presents, ocular holes, dense bones, small eyes, large head, albinism, and deafness. A rare example of a disease passed on by parents who do not exhibit the condition. Two children were identified with two different recessive mutations.
123Genetix (www.123genetix.com) is developing a big data/deep learning solution to assist researchers: Develop new hypotheses; Design and run experimental simulations to test those hypotheses; Write better grants; and, Discover potential biomarkers.
PTC Therapeutics (NASDAQ: PTCT) is a global biopharmaceutical company focused on the discovery, development, and commercialization of novel medicines, released positive preliminary results for their spinal muscular atrophy (SMA) treatment.
When the Bragg family learned their daughter, Clara had GM1, a rare Lysosomal Storage Disease they, like many parents with children with rare diseases refused to accept terrible prognosis. This is their story.