Armed with the wealth of genetic data generated by the Human Genome Project (HGP) and the 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.
Established in 1994 and expanded in 1996, NHGRI's clinical research program is tackling far-ranging scientific questions involving an array of disorders in which genes play a significant role. Among the disorders currently under study by intramural physician-scientists are: Familial Mediterranean Fever, deficiency of the IL-1 receptor antagonist (DIRA), PLCgamma2-associated antibody deficiency and immune dysregulation (PLAID), and related disorders associated with periodic fevers and autoinflammation; Attention Deficit Hyperactivity Disorder (ADHD); various disorders of the immune system including adenosine deaminase deficiency, which causes severe combined immune deficiency and Chediak-Higashi disease, characterized by infections and later neurological deterioration; a common brain malformation called holoprosencephaly (HPE); Pallister-Hall Syndrome, a rare disorder characterized by multiple birth defects; Smith-Magenis Syndrome, a disorder of development and behavior; cystinosis, a multisystemic disease that causes kidney failure at age 10 due to lysosomal storage of cystine; Hermansky-Pudlak syndrome (HPS), a disorder of albinism and bleeding due to improper formation of vesicles within cells; alkaptonuria, a devastating joint disease of adults; methylmalonic aciduria, a disorder of organic acid metabolism; autosomal recessive polycystic kidney disease and congenital hepatic fibrosis, a serious genetic kidney and liver ailment; Joubert syndrome, a similar disorder with brain involvement; and hereditary inclusion body myopathy, a disorder in which muscle strength and bulk are lost progressively in adulthood.
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 (HPS) 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. Among the many projects underway in intramural clinical research labs are:
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.
Last Updated: February 28, 2018