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Rare Diseases and International Collaboration: Sharing Knowledge for Global Impact

Rare diseases are medical conditions that affect a small percentage of the population

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Deborah Nickerson, Pioneering Genome Researcher, Dies at 67

Using the Human Genome Project as her guide, she helped find genes responsible for cardiovascular disease, autism and a rare disorder called Miller syndrome.

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In memoriam: Deborah Nickerson, genome pioneer

UW Medicine Dr. Deborah Nickerson during a video interview in 2016 after she was named one of America’s most influential scientists by Thompson

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NHGRI Takes New, WGS Look at Mendelian Diseases

NHGRI Takes New, WGS Look at Mendelian Diseases
July 27, 2021
By Allison Proffitt
July 27, 2021 | The National Institutes of Health has made a five-year, nearly $80 million commitment to the establishment of a Mendelian Genomics Research Consortium of five clinical laboratories and one data coordinating center. The Consortium will build on previous National Human Genome Research Institute (NHGRI) work to develop new methods for identifying the genetic causes of single-gene diseases.
The clinical centers will be run by Stephen B. Montgomery, Ph.D., at Stanford University School of Medicine, Stanford, California; Deborah A. Nickerson, Ph.D., at the University of Washington, Department of Genome Sciences, Seattle; Anne O'Donnell-Luria, M.D., Ph.D., at the Broad Institute of MIT and Harvard, Cambridge, Massachusetts, and Boston Children's Hospital; Eric J. Vilain, M.D., Ph.D., at the Center for Genetic Medicine Research at Children's National Hospital, Washington, D.C.; and Jennifer E. Posey., Ph.D., at the Baylor College of Medicine, Houston. The data coordination center, run by Susanne May, Ph.D., at the University of Washington School of Public Health, Seattle, will manage the release of genomic data and facilitate data sharing.

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UW Medicine joins new NIH effort on rare genetic conditions

UW Medicine joins new NIH effort on rare genetic conditions
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