In the December issue of The Genomics Landscape, NHGRI Director Dr. Eric Green recaps progress from NHGRI strategic planning process events in 2018. Other topics include: Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research; the Workshop to Increase Access and Utilization of ENCODE Data; and a collection of papers on "Genomics and the Human Genome Project" that was recently published in a special issue of the Journal of the History of Biology.
NHGRI researchers have discovered a hormone in a mouse study that can be used immediately to can help doctors predict how severely patients with the rare disease methylmalonic acidemia are affected and when to refer them for liver transplants. The findings, published December 6 in JCI Insight, also might shed light on more common disorders such as fatty liver disease, obesity and diabetes.
For the first time, the Food and Drug Administration has formally recognized a public dataset of genetic variants and their relationship to disease to help accelerate the development of reliable genetic tests. Genetic test makers, including those using next-gen sequencing, can use genetic variant information in the Clinical Genome Resource (ClinGen) to support clinical validity in premarket submissions to FDA. ClinGen is administered by the National Human Genome Research Institute, part of the National Institutes of Health, and is available via ClinVar.
Andy Baxevanis, Ph.D., a senior scientist leading the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). Dr. Baxevanis was recognized for his distinguished contributions to the field of comparative genomics, particularly for using computational approaches to study the molecular innovations driving diversity in early animal evolution.
North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans - including the people of Finland - than previously thought, according to a new genomics study in Nature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data.