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 . . .
Ricardo Maselli, a professor in the neurology department at the University of California Davis was awarded an MDA research grant totaling $300,000 over three years to test whether transplantation of stem cells engineered to secrete a needed protein could be a beneficial treatment strategy in congenital myasthenic syndromes (CMS). If studies in a mouse model are . . .
Liza Pon, professor of pathology and cell biology at Columbia University in New York was awarded an MDA research grant totaling $300,000 over three years to study the underlying mechanisms at work in CHKB congenital muscular dystrophy (CMD). Pon also will test whether therapies that promote function of a protein known as the ryanodine receptor . . .
Montserrat Samso, assistant professor in the department of physiology at Virginia Commonwealth University in Richmond, was awarded an MDA research grant totaling $300,000 over three years to generate a crystal structure of the ryanodine receptor (RyR1), an intracellular calcium channel, at high resolution and in different conformational states, with and without disease-causing mutations, to allow . . .
Jeffrey Rothstein, professor of neurology and neuroscience at Johns Hopkins University School of Medicine in Baltimore, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by mutations in the C9ORF72 gene. Rothstein will use ALS patient-derived stem cells to investigate the role of . . .
Gary Armstrong, a senior post-doctoral researcher at Université de Montréal in Quebec, Canada, was awarded a development grant totaling $177,670 over three years to further understanding of the synaptic defects that occur in ALS (amyotrophic lateral sclerosis). Abnormalities arising at the neuromuscular junction occur early in animal models of the disease and very little is . . .
Abigail Lloyd, Age 10 Loganville, GA Home and Family Abigail is the daughter of Jeri and Ryan Lloyd. She has one sister and one brother as well as 2 dogs and a guinea pig. Diagnosis Abigail has Mitochondrial Myopathy. Muscle cells and nerve cells have especially high energy needs, muscular and neurological problems — such . . .
Kyle Eggleston, Age 10 Alpharetta, GA Home and Family Kyle is the son of Debbie and Andrew Eggleston. He is the oldest of three children and has two dogs. Diagnosis Kyle has Duchenne Muscular Dystrophy. In DMD, boys begin to show signs of muscle weakness as early as age 3. The disease gradually weakens the . . .
Marjaneh Shaker, Age 11 Honolulu, HI Home and Family Marjaneh is the daughter of Morad and Marjan Shaker. She is a big sister to Alex and Anahita. Marjaneh is a local girl, born in Honolulu. Diagnosis Marjaneh has Congenital Muscular Dystrophy. CMD is a muscular dystrophy which usually becomes apparent at or near birth. In . . .
Jayden Long, Age 7 Nampa, ID Home and Family Jayden lives at home with his mom and dad, a dog, 3 Koi fish, 1 rainbow shark, and 1 sucker fish. Diagnosis Jayden was diagnosed with Mitochondrial Myopathy at the age of 3, shortly after his younger brother Jaxon passed away. The main problems associated with . . .
