NHGRI logo

Equipped with the power of genomic information and state-of-the art resources available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine - one where a more profound understanding of the biological basis of disease will pave the way for more effective ways to diagnose, treat and prevent illness.


NHGRI clinical research and field work also spans a wide spectrum of populations, from Colombians living in the Andes Mountains, to Old Order Amish in Lancaster County, Pennsylvania, to two different populations of Hermansky-Pudlak Syndrome patients in Puerto Rico. NHGRI researchers are engaged in collaborations with other institutions that are conducting field studies in West Africa and in Finland in the quest to determine the genetic risk factors for adult-onset, Type II diabetes.

Analyzing data gathered in family studies, NHGRI clinical researchers have played key roles in a number of important gene discoveries, including the identification of genes responsible for holoprosencephaly, for a variety of periodic fevers, for Gray Platelet Syndrome and four types of Hermansky-Pudlak Syndrome, for Proteus syndrome, Arterial Calcification due to Deficiency of CD-73 (ACDC), and for a new form of methylmalonic acidemia.

However, NHGRI's clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined immunodeficiency, conducting clinical trials, conduct of clinical trials of a drug to combat mitochondrial disease, determine the safety and effecacy of drugs, and pursuing therapies to prevent progression of muscle wasting and weakness, among many other avenues.

Another vital component of clinical research at NHGRI are studies aimed at examining the psychosocial, ethical and policy implications of genetics research. Research projects currently underway in this area include an empirical study to determine what patients understand about the storage and use of DNA for future research, investigations into how patients respond to receiving state-of-the-art genetic information, and follow up analysis on the impact of predictive testing for the inherited colon cancer genetic syndrome, hereditary non-polyposis colon cancer or HNPCC. 

NHGRI remains strongly committed to the future growth and development of the intramural clinical research program. The NHGRI clinical program also looks forward to increased opportunities for cooperative clinical projects and the exchange of ideas between NHGRI investigators and the rest of the NIH research community.

Doctor and patient

Current Clinical Studies

NHGRI researchers are working with patients and families to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and treatments.

Learn More

Last updated: June 18, 2019