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NIH's Clinical Genome Resource (ClinGen) and ClinVar programs are addressing a major barrier to incorporating genomic medicine into healthcare, which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation, published on Oct. 12, highlights the broad array of advances made through these programs, which work in concert to advance knowledge connecting human genomic variation to human health.
The NIH Common Fund has expanded the Undiagnosed Diseases Network (UDN) from seven to 12 clinical sites, increasing the geographical distribution of the nationwide network and the number of people with access to a UDN clinical site. The new awards are part of the second phase of the project aimed at improving and accelerating the diagnosis of rare and undiagnosed conditions. The UDN has diagnosed more than 200 cases since opening to applications in 2015.
Washington University in St. Louis awarded an honorary Doctor of Science degree to Eric D. Green, M.D., Ph.D., director of NIH's National Human Genome Research Institute, in recognition of his contributions to the field of genomics and its application to medicine. This is the third award given to Dr. Green by Washington University.
