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Top Medical News Today

Are You a Carrier of a Rare Genetic Disease?
Doron Behar, MD, chief scientific officer at Gene By Gene talks about the company's new carrier screening programs to help couples plan for their family's health.
Epidermolysis Bullosa (EB) Patient Involved in Gene Therapy Study at Stanford
Doctors at Stanford University have developed an experimental therapy that aims to cure epidermolysis bullosa.
Usher for Usher Syndrome: Dancing for Awareness
Ava, an 11-year-old girl with Type 1 Usher Syndrome, hopes to win the attention of Usher by inspiring others to dance and share her story. Usher syndrome is a rare inherited condition that causes hearing and vision loss in early adolescence.
Running for Rare Diseases - 2017 Global Genes' Denim Dash
The 2017 Global Genes’ Denim Dash, a 5K run, will occur on April 13 at the Newport Dunes Waterfront Resort & Marina, Newport Beach, CA. All proceeds from the run will go to Global Genes' RARE Patient Impact Grant.
Vertex New Combination Therapy VERY Promising, Stock Up
Data from two Phase 3 cystic fibrosis study indicated Vertex’s new combination therapy (tezacaftor / ivacaftor) will be a winner.
Rare Disease Beauty Queen
What makes each of those beauty queen hospital visits unique is that Victoria is often a patient as well. Victoria has Ehlers-Danlos syndrome (EDS)
Struggles of a Rare Disease Family - The Documentary and The Blog
The star of the documentary "Our Curse' is Leo - a boy born with central hypoventilation syndrome.
Progress in Research Related to Familial Chylomicronemia Syndrome (FCS)
While there is no therapy approved for the treatment of FCS, results from a pivotal Phase 3 clinical trial show that treatment with the investigational antisense drug volanesorsen significantly reduced triglyceride levels
American MedChem – Discovering Orphan Drugs for Children
AMC undertakes the responsibility of creating medicines for sick children afflicted with diseases which don’t present an attractive business opportunity for the extant commercial pharmaceutical industry.
The Genomics Network
Robert Nussbaum, MD, chief medical officer at Invitae talks about The Genomics Network - a patient registry program.
RareDR Resource Guide
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