Press Release: BioBlast Pharma Announces Granting of Fast Track Designation by the FDA for Cabaletta in Oculopharyngeal Muscular Dystrophy (OPMD) Statement from MDA Senior Vice President and Scientific Program Director Grace Pavlath, Ph.D.: “We are thrilled to see this continued progress from the FDA. OPMD is a rare and debilitating muscular dystrophy for which there . . .
Marshall Tucker Band to headline exclusive concert at 28th annual event #MDARide4Life PHILADELPHIA, April 7, 2015 — Hundreds of motorcycle enthusiasts participating in MDA Ride for Life this spring will put their kickstands down in an all new location for the 28th annual event to benefit the Muscular Dystrophy Association on May 1- 3 at . . .
MDA, Genzyme and Emory University team up to expand access to genetic testing for accurate diagnosis of limb-girdle muscular dystrophy CHICAGO, March 26, 2015 — The Muscular Dystrophy Association announced today that thanks to a grant from Genzyme, a Sanofi company, and in collaboration with Emory Genetics Laboratory, MDA clinics are now offering genetic testing . . .
Saturday morning’s presentations were devoted to the latest news about clinical trials and drug development. Among the highlights: Duchenne muscular dystrophy (DMD): Edward Kaye from Sarepta Therapeutics presented his company’s most recent data about its experimental drug eteplirsen, designed to treat about 13 percent of the Duchenne muscular dystrophy (DMD) population, and discussed plans for . . .
Friday’s afternoon sessions focused on laboratory studies in animal and cell models of neuromuscular diseases. These kinds of studies are necessary before treatments can be tested in humans. Among the highlights: Spinal muscular atrophy (SMA): Brian Kaspar from Nationwide Children’s Hospital in Columbus, Ohio, presented experiments from his lab to develop gene transfer therapy for . . .
Friday’s morning sessions focused on deepening understanding of the mechanisms underlying diseases of the muscles and nervous system Among the highlights: Spinal muscular atrophy (SMA): Christine DiDonato from Northwestern University presented her work with mice that have a disease mimicking spinal muscular atrophy (SMA) with varying degrees of severity, which is characteristic of human SMA . . .
Thursday’s afternoon sessions focused on therapeutic approaches now in development Here are some highlights: Duchenne muscular dystrophy (DMD): Dean Burkin from the University of Nevada, Reno, presented his team’s findings that show how raising levels of a protein called alpha 7 beta 1 integrin has potential as a therapy for treating Duchenne muscular dystrophy. A . . .
Thursday morning focused on understanding the genetics and the “epigenetics” of neuromuscular disorders Epigenetics is the relatively new field of factors that influence the activity of genes but do not change the basic coding (DNA sequence) of a gene. Identifying the genetic and epigenetic pathways of a disease can allow for better diagnosis and genetic . . .
CHICAGO, Feb. 27, 2015 – Muscular Dystrophy Association research grantee Charles Gersbach, Assistant Professor of Biomedical Engineering at Duke University, recently announced a potentially game-changing advance in gene modification for boys and young men with Duchenne muscular dystrophy (DMD). The results were published Feb. 18 in Nature Communications, and Gersbach will discuss their implications at MDA’s . . .
I recently stumbled upon a definition of the word “rare” that profoundly unnerved me: “rare — not found in large numbers and consequently not of interest or value.” As a neurologist for nearly three decades, my colleagues and I in the medical field consider a disease or disorder to be “rare” in the United States . . .