Laura Hagerty, Ph.D. As we settle into 2016 and face a fresh new year full of hope and optimism, much of the focus of our DMD community remains on the exon skipping therapy at the regulatory review end of the development pipeline: Sarepta Therapeutics’ eteplirsen. In November we saw our first advisory committee review for . . .
Kasey Bennett loves football. In fact, it was during one of his games that his parents noticed there was something different about their young quarterback. “He couldn’t keep up with the other kids,” says his father. Soon after, Kasey was diagnosed with DMD. The disease has taken him out of the game but it hasn’t . . .
Zane Jacobs is a “wild and crazy” 7-year-old who “loves to get dirty and cause absolute chaos.” Though he is affected by DMD, he and his family are determined to make the most of their time together, whether that’s playing football in the front yard or swimming at the waterpark. When not horsing around with . . .
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 . . .
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, . . .
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 . . .
Jared Conant, Age 10 Yarmouth, ME Home and Family Jared lives with his father Barry and new puppy, Autumn. Diagnosis Jared was diagnosed with Duchenne Muscular Dystrophy (DMD) at the age of 8. DMD is a genetic disorder characterized by progressive muscle degeneration and weakness. DMD is caused by an absence of dystrophin, a protein . . .
Donovan Carlson, Age 16 Woodbury, MN Home and Family Donovan lives with his mom Jenny, brother, Levi and service dog Buffy. Diagnosis Donovan was diagnosed with Duchenne Muscular Dystrophy at age 5. Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. DMD is caused by an absence of dystrophin, . . .
Addison Schwab, Age 6 Lisbon, ND Home and Family Addison is the son of Cliff and Damien Howey. He has 1 brother, Ethan who is 13 and 1 sister, Emma who is 17. He also has a dog and 2 cats. Diagnosis Addison was diagnosed with Duchenne Muscular Dystrophy in March of 2010. DMD is . . .
