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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.


Niemann-Pick Disease

Gene therapy shows promise for treating Niemann-Pick disease type C1

For the first time, NIH researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1), a rare and fatal disorder of the central nervous system. The study, led by researchers at the National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26, 2016, in the journal Human Molecular Genetics.

Leslie Biesecker, M.D.

NHGRI branch chief elected to National Academy of Medicine

Leslie G. Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, has been elected to the National Academy of Medicine (NAM). Dr. Biesecker is a clinical and molecular geneticist who studies the cause of rare disorders, such as Proteus syndrome, to improve medical treatment for affected individuals. NAM recognizes individuals who have made major contributions to the advancement of medical science, health care and public health.

Eric Green

NHGRI technology development programs blaze forward

In this issue of The Genomics Landscape, we feature an overview of NHGRI's impressive technology development programs and the many accomplishments and goals those programs have achieved. There's also a story on an NHGRI training program that "turns docs into researchers," a review of a recent workshop that focused on family health history tools and a welcome to two new policy and education fellows.

Nucleic Acid

NIH commits $6.7 million to advance DNA, RNA sequencing technology

NHGRI is pushing beyond current capabilities in genome sequencing. New funding awards, totaling approximately $6.7 million, are part of a technology investment that began in 2004. The aim is to advance the development of genome sequencing technologies that are faster, cheaper, and more accurate and sensitive than those we already have.

Peter McGuire, Ph.D.

Training docs to be researchers, too

The Physician-Scientist Development Program (PSDP) at the National Human Genome Research Institute helps physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to use the tools that unlock information in the human genome for real world applications, such as finding cures for genetic diseases. Armed with training from the PSDP, Dr. Peter McGuire joins the Division of Intramural Research as its newest faculty member.