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 . . .
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 . . .
Alice McConnell, Age 11 Anchorage, AK Home and Family Alice lives with her parents and two brothers: John (who has Duchenne) and Daniel. Diagnosis Alice was diagnosed with Female Manifesting Carrier Syndrome Duchenne Muscular Dystrophy at age 6. School Alice is in 7th grade and enjoys Math and Science. Interests Alice’s interests include piano, choir, . . .
Alexis “Lexi” Noland, Age 15 Glendale, AZ Home and Family Lexi is the daughter of Casey and Keia Noland. She has three sisters and one brother. Diagnosis Lexi has Charcot Marie Tooth which is a group of hereditary disorders that damage the nerves in your arms and legs (peripheral nerves). School Lexi is a freshman . . .