Ronald Haller, professor of neurology and neurotherapeutics at University of Texas Southwestern Medical Center in Dallas, was awarded an MDA research grant totaling $300,000 over three years to identify the cause and possible effective treatment for the oxidative defect that accompanies blocked glycogen breakdown in McArdle disease (phosphorylase deficiency). Haller plans to assess levels of . . .
Criss Hartzell, professor of cell biology at Emory University School of Medicine in Atlanta, Ga., was awarded an MDA research grant to elucidate the mechanisms underlying type 2L limb-girdle muscular dystrophy (LGMD), caused by mutations in the ANO5 gene. Hartzell will examine the role the ANO5 protein plays in trafficking and fusion of cell membranes . . .
Antoine de Morrée, a postdoctoral scholar at Palo Alto Veterans Institute for Research and Stanford University in Palo Alto, Calif., was awarded an MDA development grant totaling $180,000 over three years to test a way to stop muscles from making toxic DUX4 protein as a possible treatment for facioscapulohumeral muscular dystrophy (FSHD). The goals of de . . .
CMRI Claire Gordon Duncan Chair in Genetics and Professor of Pediatrics Sanjay Bidichandani, at University of Oklahoma Health Sciences Center in Oklahoma City, was awarded an MDA research grant totaling $300,000 over three years to address clinically and scientifically important questions regarding the use of existing and novel HDAC inhibitors to increase levels of the . . .
Thomas Rando, at Palo Alto Veterans Institute for Research and Stanford University in California, was awarded an MDA research grant totaling $300,000 over three years to develop a mouse model — a so-called “reporter mouse” — that will reflect and quantify degeneration of skeletal muscles. Importantly, scientists will be able to use the mouse to . . .
Donghoon Lee, a research associate professor in the department of radiology at the University of Washington in Seattle, was awarded an MDA research grant totaling $300,000 over three years to develop imaging biomarkers for Duchenne muscular dystrophy (DMD). Lee will develop noninvasive magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) methodologies that reflect specific . . .
Lily Joy Bamberg, Age 11 Centreville, AL Home and Family Lily Joy Bamberg was adopted from Inner Mongolia, China at the age of 7. Lily lives with her parents, Trent and Kristie Bamberg, and has 3 siblings: Mary Ashtyn (16), Reece (13), and Ava (10). Diagnosis Approximately 3 months after her adoption, Lily was diagnosed . . .
Matthew Christopher Allen, Age 8 Lee’s Summit, MO Home and Family Matthew lives with his parents, Nick and Vanessa, older brother and younger sister. He has two dogs, Cinnamon and Kaycee, and a cat, Kaydee, who is his favorite. Diagnosis Matthew was diagnosed at the age of 5 with Mitochondrial Myopathy and Primary Neuromuscular Disease . . .
Aikaterini Kontrogianni-Konstantopoulos, an associate professor in the department of biochemistry and molecular biology at the University of Maryland School of Medicine in Baltimore, was awarded an MDA research grant totaling $300,000 over three years to study how the Myosin Binding Protein-C family of proteins may regulate contractile function of skeletal muscle in distal muscular dystrophy . . .
Robert Burgess, a professor at The Jackson Laboratory in Bar Harbor, Maine, has been awarded an MDA research grant totaling $300,000 over three years. Burgess and co-investigator Scott Harper, associate professor at Nationwide Children’s Hospital Center for Gene Therapy in Columbus, Ohio, will test an AAV gene therapy approach to specifically block the altered form . . .