© 2017 by RareFundingTeam

Rare Disease News

September 1, 2017

Using CRISPR, researchers have successfully treated congenital muscular dystrophy type 1A (MDC1A), a rare disease that can lead to severe muscle wasting and paralysis, in mice.

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.

September 1, 2017

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.

The OPEN ACT, introduced by Sen. Orin Hatch of Utah, would provide incentives to pharmaceutical companies to repurpose already approved drugs for the treatment of rare diseases.

September 1, 2017

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.

September 1, 2017

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.

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