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Detecting rare disease: Revealing the methods, motivations, and implications


Washington, DC
Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He came to Children’s National Hospital in Washington, DC, in 2010 from Vanderbilt University and holds board certifications in both pediatrics and clinical genetics as well as biochemical genetics. At Children’s National, he leads the Division of Genetics and Metabolism, currently the largest clinical division of its kind in the world, overseeing 8,000 patients a year with rare diseases. His laboratory works on both devices and treatments for patients with genetic diseases while also supporting advancements in mainstream medicine through education about these disorders. His work has resulted in new drugs in U.S. Food and Drug Administration trials for patients with congenital heart disease and premature birth. Dr. Summar holds more than 60 patents and has published more than 160 peer-reviewed research studies. He developed and launched the world’s first R ....

United States , Hong Kong , United Kingdom , University Of Cape Town , Western Cape , South Africa , Eteläuomen Läi , University Of Illinois , Georgetown University , District Of Columbia , University Of Texas , Jimeng Sun , Sean Sanders , Cynthia Tifft , University Of Cambridge , Children National Research Innovation Campus , College Of Computing , Institute Medical Genetics Training Program , National Institutes Of Health , Drug Administration , Georgia Institute Of Technology , Rare Disease Institute , Finnish Institute For Health , Health Innovation Professor , Children National Hospital , National Human Genome Research Institute ,