Cassidy Wilson, Age 15 Roanoke, VA Home and Family Cassidy is the son of Jeanne & Dr. Jeffery Wilson. He has two brothers, Alex and Aiden, and a dog, Sammy. Diagnosis Cassidy has Charcot Marie Tooth (Type 2A), which causes damage to the peripheral nerves and relay sensations, like pain and temperature. CMT can cause . . .
Marion Balderas, Age 13 Moses Lake, WA Home and Family Marion is a happy-go-lucky girl who lives with her mom, Kima, and dad, Izzy. She has two dogs- a poodle named Cloud and a cockapoo named Jager. Diagnosis Congenital Muscular Dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near . . .
Joseph G. Killingsworth, Age 15 Point Pleasant, WV Home and Family Joey is the son of Stephanie and Kenny Killingsworth. He also has one little brother. Diagnosis Joey was diagnosed with Mitochondria Myopathy when he was 9 years old. This is a type of muscular dystrophy which affects a specific part of the cells in . . .
New Berlin fourth-grader continues to advocate for MDA through historic awareness program CHICAGO, Jan. 8, 2015 — Reagan Imhoff spent 2014 jet-setting across the country, capturing the hearts of many as the face and voice of the Muscular Dystrophy Association — and now the 9-year-old will return as the 2015 National Goodwill Ambassador. Video: Meet Reagan . . .
Jacob Smith, Age 13 Burlington, WI Home and Family Jacob lives with his mom Bobbi Ann, dad Kerry, and sister Jessica. Jacob’s dog Minnie is small enough to ride with him in his power wheelchair! Diagnosis Jake was diagnosed with Spinal Muscular Atrophy Type 2 at 14-months of age. Spinal muscular atrophy (SMA) is a . . .
Anthony McCumber, Age 10 Bar Nunn, WY Home and Family Anthony lives with his mom and stepdad, Darshee and Derek Buist, his sister Terra, and stepbrothers Xavier and Zayden. Diagnosis Anthony is diagnosed with Limb-Girdle Muscular Dystrophy. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the . . .
Rita Sattler, associate professor of neurobiology at Barrow Neurological Institute, Dignity Health – St. Joseph’s Hospital in Phoenix, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by expansions in the C9ORF72 gene. Please describe your current research. The goal is to study . . .
Terra McCumber, Age 9 Bar Nunn, WY Home and Family Terra lives with her mom and stepdad, Darshee and Derek Buist, her brother Anthony, and stepbrothers Xavier and Zayden. Diagnosis Terra is diagnosed with Limb-Girdle Muscular Dystrophy. Limb-Girdle muscular dystrophy isn’t one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the . . .
Diane Merry, associate professor at Thomas Jefferson University in Philadelphia, is working to identify therapeutic opportunities to promote normal androgen receptor function while preventing the toxic effects of polyglutamine expansion in spinal-bulbar muscular atrophy (SBMA). With GlaxoSmithKline, Merry will test small molecule compounds that activate an enzyme called SIRT1 in cell and mouse models of . . .
Background: PTC Therapeutics yesterday announced results from the phase 3 “ACT DMD” trial of ataluren, an oral, first-in-class, protein restoration therapy for the treatment of nonsense mutation Duchenne muscular dystrophy (DMD). The trial results showed clinically meaningful benefits for ataluren-treated patients, indicating the drug may slow functional decline in DMD patients, with some patients apparently . . .
