Stephan Züchner, MD, PhD, professor for Human Genetics and Neurology, Chair of the Human Genetics Department, and codirector of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine, recently discovered mutations in the sorbitol dehydrogenase gene (SORD) that cause a recessive, axonal form of Charcot-Marie-Tooth disease (CMT) . . .
Last year, Sharon Hesterlee, PhD, took the helm as executive vice president, chief research officer, at MDA. With her unique, decades-spanning career — which began, in fact, at MDA — in the pharmaceutical, biotechnology, and nonprofit sectors, her appointment is certain to advance not only MDA’s mission but also the research and development of genetic . . .
AavantiBio, a biotechnology company developing a gene-targeting therapy for Friedreich’s ataxia (FA), was awarded MDA Venture Philanthropy (MVP) funding totaling $1,076,232 to advance AavantiBio’s phase 2 clinical trial of a gene-replacement therapy for the disease. MVP is MDA’s drug development program, which is exclusively focused on funding the discovery and clinical application of treatments and . . .
Charles Thornton, MD, professor of Neurology at the University of Rochester, was awarded an MDA clinical research network grant (CRNG) totaling $1,118,673 over three years to continue to lead the development of the Myotonic Dystrophy Clinical Research Network, which comprises six medical centers specializing in research and clinical care of myotonic dystrophy (DM) types 1 . . .
Matthew Wood, PhD, professor of Neuroscience at the University of Oxford and director of both the Oxford Rare Disease Center and the MDUK Oxford Neuromuscular Center, was awarded an MDA research grant totaling $210,000 over two years to optimize the delivery of genetic therapies such as oligonucleotides to tissues for treating Duchenne muscular dystrophy (DMD). . . .
Martin Childers, PhD, DO, chief medical officer at Asklepios BioPharmaceutical Inc. in North Carolina, was awarded an MDA research grant totaling $192,500 over one year to perform pre-clinical studies using an adeno-associated virus (AAV) to deliver a gene therapy for limb-girdle muscular dystrophy type 2I (LGMD2I). Limb-girdle muscular dystrophies are a diverse group of disorders . . .
Michael Shy, PhD, professor of Neurology and Pediatrics at the University of Iowa, was awarded an MDA Clinical Research Network Grant (CRNG) totaling $423,413 over three years to further develop the Inherited Neuropathies Consortium (INC), a network of clinical investigators dedicated to developing the infrastructure necessary to evaluate therapies for patients with inherited peripheral neuropathies, . . .
Sanjay Bidichandani, MBBS, PhD, professor of Pediatrics at the University of Oklahoma Health Sciences Center, has an ongoing MDA research grant (totaling $300,000 over three years) to study the role of epigenetic silencing of the frataxin gene (FXN) in Friedreich’s ataxia (FA). (Epigenetic changes to the genome are factors that influence the activity of genes . . .
Receiving a diagnosis of a neuromuscular disease is often not easy — there can be denial, anger, grief, and a frustrating sense that maybe life is, in a way, over. For Wolfgang Pernice, PhD, however, being diagnosed with Charcot Marie Tooth disease (CMT) in his early teens didn’t bother him that much. He says his . . .
Carlos T. Moraes, PhD, professor of Neurology at the University of Miami’s Miller School of Medicine in Florida, has an ongoing MDA research grant (totaling $300,000 over three years) to develop gene-editing enzymes that can be used to correct genetic mutations causing mitochondrial myopathies. Mitochondrial diseases caused by mutations in the mitochondrial DNA (mtDNA) are most . . .