A new method using DNA isolated from a blood sample was far more sensitive in detecting large mutations causing Duchenne muscular dystrophy than currently used genetic diagnostics tools, according to a new study. The next-generation mapping method, using the Bionano Genomics platform, has the potential to replace less sensitive…
In this super cute video from WatchCut Video, children of various ages meet a man living with muscular dystrophy and ask some candid questions about his life with the condition. MORE: Talking to family members about your child’s neuromuscular disorder Amine talks about how having…
Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…
According to The Morning Call, 23-year-old DeSales University graduate Derek Szena desperately wanted to visit Disney World, but the cost of getting there and taking the nursing staff that he needs with him would cost more than $15,000. MORE: Find out what it’s like to live with a…
Sarepta Therapeutics is working with Duke University’s biomedical engineering program program on gene editing therapies for Duchenne muscular dystrophy. The editing approach the partners are using is called CRISPR/Cas9. It can correct mutations by removing regions of a gene that contain abnormal material. Removing the region restores the function of the protein that…
Infection by the influenza virus, commonly known as the flu, was found to contribute to muscle degeneration in a zebrafish model of Duchenne muscular dystrophy (DMD). Scientists often use zebrafish in research due to their genetic structure, which is similar to that of humans. The findings were reported in the…
The nonprofit CureDuchenne launched a new resource for the Duchenne muscular dystrophy (DMD) community called the CureDuchenne Cares Virtual Durable Medical Equipment (DME) Expo. CureDuchenne was founded in 2003 to help save the lives of those with DMD. Through CureDuchenne Cares, the organization has brought innovative…
Austin Pinkerton may have muscular dystrophy but that hasn’t stopped him from enjoying his favorite sport, basketball. According to WHNT19 News, the senior at Hazel Green High School is the manager of the school’s varsity boys basketball team, the Trojans. MORE: High school teen Bryan Arnold from Anchorage…
Results from the HOPE-1 trial of Capricor Therapeutics’ cell-based therapy CAP-1002 to treat boys and men at advanced stages of Duchenne muscular dystrophy (DMD) will be released at a late-breaking session at the American Heart Association Scientific Sessions 2017. In a session…
The U.S. Food and Drug Administration decided not to approve Translarna (ataluren), by PTC Therapeutics, as a treatment for specific types of Duchenne muscular dystrophy caused by “nonsense” mutations. Although not entirely unexpected, the decision was disappointing to many in the Duchenne community. On Sept. 28, an FDA advisory…
Get regular updates to your inbox.