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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 ,

Jump ARCHES Spring Grants Focus on COVID-19 Solutions

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PEORIA, Ill., April 14, 2021 /PRNewswire/ Seven research projects are sharing slightly more than $400,000 in funding through the Jump ARCHES research and development program to address challenges and expand on lessons learned about COVID-19 vaccinations and testing. The Jump ARCHES program is a partnership between OSF HealthCare and The Grainger College of Engineering at the University of Illinois Urbana-Champaign (U of I) and its College of Medicine in Peoria.
The funding supports research involving clinicians, engineers and social scientists to rapidly develop technologies and devices that could revolutionize medical training and health care delivery. A requirement of the grant applications was for solutions that could be deployed quickly, within four to six weeks. Investigators were also encouraged to consider how to best mitigate the impact of age, location, and social barriers in delivering quality health care to vulnerabl ....

United States , United Kingdom , University Of Illinois At Chicago , University Of Illinois , University Of Illinois College Medicine , T Kesh Kesavadas , Rebecca Lee Smith , W Catherine Cheung , Ann Willemsen Dunlap , Scott Barrows , Mary Pietrowicz , Adam Cross , Michaelene Ostrosky , Minki Kim , Ryan Finkenbine , John Vozenilek , Nicole Delinski , Jimeng Sun , Sarah Donohue , Seth Stutzman , Shandra Jamison , Thenkurussi Kesh Kesavadas , Thanh Helen Nguyen , Mary Stapel , Jon Michel , Health Care Engineering Systems Center ,