Mitochondrial Myopathy

Five Questions with CMD Researcher Liza Pon

MM - Catarina Quinzii, M.D

Catarina Quinzii, an assistant professor at Columbia University Medical Center in New York, has been awarded an MDA research grant totaling $253,800 over three years to investigate how flaws in the gene for a protein called RMND1 lead to abnormalities in mitochondria, the energy-producing parts of cells.

MM - Carlos Moraes, Ph.D.

Carlos Moraes, a professor of neurology, cell biology and anatomy at the University of Miami (Fla.), has been awarded an MDA research grant totaling $253,800 over three years to study a potential treatment for mitochondrial myopathies, conducting experiments in human cells and in mice.  Mitochondria, the energy-producing parts of cells, contain their own DNA, which can develop mutations (flaws) and cause disease.

MM - David Chan, M.D., Ph.D.

David Chan, a professor of biology at the California Institute of Technology in Pasadena, has been awarded an MDA research grant totaling $253,800 over three years, to study mitochondria in mice. Mitochondria are the energy-producing parts of cells, and an aspect of their normal functioning involves fusing together and dividing. Chan and colleagues will study mice with defects in the fusion or division of mitochondria to improve the understanding of mitochondrial myopathies.

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects

In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.

“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”

Mito. Myopathy — Marilena D’Aurelio, Ph.D.

Marilena D’Aurelio, assistant research professor at Weill Medical College of Cornell University in New York City, was awarded an MDA research grant totaling $300,000 over a period of three years to test whether dietary supplementation can be therapeutic in mitochondrial myopathies.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

Research Briefs: DMD, Leigh Syndrome, MG, Periodic Paralysis, Pompe Disease

Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.