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The National Human Genome Research Institute conducts genetic and genomic research, funds genetic and genomic research and promotes that research to advance genomics in health care.


Eric Green

Mourning the Loss of an NIH Giant, NIAMS Director Steve Katz

In the January 2019 issue of The Genomics Landscape, NHGRI Director Dr. Eric Green honors the legacy of long-time Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Stephen (Steve) I. Katz, M.D., Ph.D. after he passed away in December 2018. Other topics include research supplements to promote diversity in health-related research and the recently-published workshop report for the Genomic Medicine XI Meeting: Research Directions in Genomic Medicine Implementation.

Sickle Cells

Sickle cell disease community is hopeful that genome editing will rechart course of the disease

In the first study of its kind, NHGRI researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease. Study participants expressed overall optimism about participating in human genome editing clinical trials, but were concerned about treatment risks and transparency of the research enterprise, according to the findings published December 24 in Genetics in Medicine.

William Gahl

After 16 years, Dr. Gahl steps down as NHGRI intramural clinical director to focus on research

William A. Gahl, M.D., Ph.D., has stepped down as clinical director of NHGRI's Division of Intramural Research (DIR). Dr. Gahl has nurtured and promoted clinical research in the NHGRI DIR since 2002. He also founded and has directed the NIH Undiagnosed Diseases Program since 2008. Dr. Gahl will continue his research in NHGRI's Medical Genetics Branch and Human Biochemical Genetics Section. NHGRI Scientific Director Dan Kastner, M.D., Ph.D., will serve as acting clinical director while NHGRI launches a major search for Dr. Gahl's replacement.

An electron micrograph showing abnormally shaped and structured mitochondria in the liver of a mutant mouse that models methylmalonic acidemia. Image credit: Patricia M. Zerfas, NIH Office of Research Services.

Elevated hormone flags liver problems in mice with methylmalonic acidemia (MMA)

NHGRI researchers have discovered a hormone in a mouse study that can be used immediately to 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.

Doctor and genetic data

FDA recognizes NHGRI's ClinGen, dataset that ties genetic variants to disease

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.