Ceridwen Hughes created a “The Rare Project” ― a series of photos and stories of kids with rare diseases. “I also wanted to inject some beauty into environments that...be sterile and uninviting.”

Two European Bio-Tech companies are investigating the suitability of combining the two companies’ technology into one powerful gene therapy.

Patients with a genetic disease, adrenoleukodystrophy, or ALD, causing brain cell death were successfully treated with gene therapy.

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.

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.

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.

Research carried out on a Niemann-Pick type C1 (NPC1) treatment can lead to a new generation of potential therapies for NPC1 and other similar disorders, as well as neurodegenerative diseases such as Parkinson’s and Alzheimer’s diseases.

Uplifting Athletes, a nonprofit organization, aimed at inspiring hope for the rare disease community through sport, has a national network of chapters run by student-athletes. It was founded by former Penn State football player Scott Shirley in 2003 after his father wa...

Vertex is a global biotechnical company that focuses on developing and commercializing medicines to aid people with serious diseases to lead better lives. Vertex launched the “All in for CF” scholarship program to help people with cystic fibrosis and their immediate fa...

Chronic disease patients, who invest a great deal of time in the medical system, must apply pressure on legislators to improve access and transparency of the medical system.

Insurers are balking at the exorbitant price for a medication whose long-term clinical benefits have yet to be measured.

Despite its game changing technology, who will pay for CRISPR'S high cost? Will it be affordable; questions remain whether most insurance companies will pay for it.