Marshall Summar, MD, Division Chief of Genetics and Metabolism, discusses the advances in the diagnosis and treatment of rare diseases with Medscape Medical News.
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The National's Jennifer Bell covers Sheikh Zayed Institute researcher Marius Linguraru's smartphone application to detect Down syndrome.
Eric Hoffman, PhD, discusses the progress in discovering novel treatments for Duchenne muscular dystrophy with the Washington Post.
Marshall L. Summar, MD, Division Chief, Genetics and Metabolism at Children’s National Health System, has been appointed chair of the Patient-Centered Outcome Research Institute’s (PCORI) new Advisory Panel on Rare Disease by PCORI’s Board of Governors.
More clinical trials, increased patient advocacy, and collective work in a multi-disciplinary consortia of healthcare organizations, are becoming increasingly important advance rare disease research for children, says Mark Batshaw, MD.