Rachel Foster is a patient with late-onset Pompe disease. As Rachel describes in this interview, her diagnosis took 18 months of doctors appointments before finally being referred to Duke University where Dr Priya Kishnani diagnosed her with late-onset Pompe disease.
A proposal by the White House in March 2017 to cut the NIH budget by 18% would cripple medical research in the U.S.A. for years to come
On February 24-25 this year, 50 scientists and clinicians from nine countries around the world—all experts in Collagen-VI (COL6) congenital muscular dystrophy (CMD)—met in Arlington, VA to share the latest discoveries and updates about their groundbreaking work.
In many of situations, the patient often continues to go undiagnosed; fear, helplessness and anxiety often increase; and trust in the healthcare system may be compromised or lost.
Bristol-Myers Squibb (BMS) has turned a $175 million orphan drug investment into a $470 million payday.
Juli Bollinger, M.S., genetic counsellor and researcher at John Hopkins University talks about the genetics of Huntington's disease and the data she presented at the Annual ACMG Clinical Genetics Meeting in Phoenix, AZ.
Derrian Baker died on Monday April 10 in Indiana. The 26-year-old had a rare condition called Prader-Willi syndrome. His death should not have happened.
Juli Bollinger, M.S., at John Hopkins University talks about data she presented at the Annual ACMG Clinical Genetics Meeting showing that the majority of patients who tested for Huntington's disease prior to being symptomatic did think that testing for this rare, devastating disease was a good idea.
The FDA has approved Austedo (deutetrabenazine) tablets for the treatment of chorea associated with Huntington’s disease. The drug has previously been referred to as SD-809 by its developers, Teva Pharmaceuticals.
The VISION-DMD clinical trial program for vamorolone is currently enrolling boys with DMD into clinical trials in US, Canada, Australia, Sweden, UK, and Israel (open label Phase 2a, Phase 2a extension, and Long-term extension studies).