Even though the Martinez family lives in Burbank, Calif., within an hour’s drive to Los Angeles’ Cedars-Sinai Medical Center, their road to the hospital’s specialized clinics — to Dr. Robert Baloh and his work there — was a long one. Daniel and Gladis Martinez have two daughters: Genesis, 15, and Isabella, 14, born just 10 . . .
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 . . .
James Ervasti, PhD, professor of Biochemistry, Molecular Biology, and Biophysics at the University of Minnesota, Twin Cities, was awarded an MDA research grant totaling $300,000 over three years to study the mechanical characterization of dystrophin in Duchenne muscular dystrophy (DMD). DMD is caused by a mutation in the dystrophin gene on the X chromosome that . . .
MDA announced today the awarding of 25 new MDA grants totaling more than $6.6 million toward research focused on a variety of rare neuromuscular diseases (NMDs), including amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), congenital muscular dystrophy (CMD), Duchenne muscular dystrophy (DMD), facioscapulohumeral muscular dystrophy (FSHD), Friedreich’s ataxia (FA), inclusion body myositis (IBM), limb-girdle muscular dystrophy . . .
Stephen Meriney, PhD, professor of Neuroscience and Psychiatry at the University of Pittsburgh, was awarded an MDA research grant totaling $302,587 over three years to develop a combinatorial drug approach to discover possible therapeutics for spinal muscular atrophy (SMA). His work is focused on testing a novel calcium channel agonist (an agonist produces the same . . .
Scholar Rock Holding Corporation announced positive results from its phase 1 clinical trial evaluating SRK-015, a therapy for treating spinal muscular atrophy (SMA), at the Cure SMA Annual Conference held June 28 through July 1 this year. Consistent with previously announced interim findings in February, the final results showed positive safety, pharmacodynamic, and pharmacokinetic data in healthy volunteers, supporting . . .