The genetic and molecular basis of many neuromuscular diseases was discovered at Boston Children’s. In the mid-1980s, Louis M. Kunkel, PhD, and his colleagues identified the gene and encoded protein, dystrophin, that are altered in children with Duchenne and Becker muscular dystrophy. His lab later found genes in which mutations cause limb-girdle muscular dystrophies. Today, his laboratory is looking for new treatments for muscular dystrophies.
Since the late 1990s, Alan H. Beggs, PhD, has identified several genes that cause congenital myopathies, and they’re continuing to look for more. In 2008, Boston Children’s opened the Manton Center for Orphan Disease Research to conduct research aimed at finding ways to diagnose and treat congenital myopathies and other rare diseases.
Emanuela Gussoni, PhD, Kunkel and other Boston Children’s researchers are working to develop stem cell therapies for muscular dystrophy and other neuromuscular diseases. An overview of these efforts is given at the muscular disorders page of the Children’s Stem Cell website.
Basil Darras, MD, is working with these laboratories to identify new genes responsible for neuromuscular disorders and to develop treatments. We hope that as potential treatments are found in the laboratory, we can quickly move them into clinical trials for our patients.
We were one of the first four sites in the U.S. to participate in studies of nusinersen (brand name Spinraza), an exciting new treatment for SMA. Due to the success of clinical trials, the U.S. Food and Drug Administration (FDA) approved the use of nusinersen for SMA in children and adults in 2016, and we began offering the drug to all eligible SMA patients.
Improving genetic testing is an active area of research for us. Recently, we developed a method that allows us to screen for muscular dystrophy genes far more efficiently than has been possible in the past.
For some children, the cause of their disease remains a mystery even after extensive testing, so our researchers continue to search for new genetic changes that may explain neuromuscular diseases.
