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Research & Innovation | Overview

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.

Clinical studies

Boston Children’s is a major site for clinical studies on spinal muscular atrophy and muscular dystrophy Even if we don’t have a clinical trial your child can participate in now, we will place their name in our database so and will contact you if there’s a clinical trial that is appropriate.

Journal articles

  • Kang PB, Lidov HGW, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Inefficient dystrophin expression after cord blood transplantation in DMD. Muscle and Nerve 2010;41:746-750. PMID: 20513101.
  • McMillan HJ, Santagata S, Shapiro FD, Batish SD, Couchon EJ, Donnelly S, Kang PB. Novel MPZ mutations and congenital hypomyelinating neuropathy. Neuromuscular Disorders 2010;Jul 9 (epub). PMID: 20621479.
  • Boyden SE, Salih MA, Duncan AR, White AJ, Estrella EA, Burgess SL, Seidahmed MZ, Al-Jarallah AS, Alkhalidi HMS, Al-Maneea WM, Bennett RR, Alshemmari SH, Kunkel LM, Kang PB. Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. Neurogenetics 2010;Jul 13 (epub). PMID: 20623375.
  • Gaitanis JN, McMillan HJ, Wu A, Darras BT. Electrophysiologic evidence for anterior horn cell disease in amyoplasia. Pediatric Neurolology 2010 Aug;43(2):142-147.
  • Darras BT, Kang PB. Clinical trials in spinal muscular atrophy. Current Opinion in Pediatrics 2007;19(6):675-679.