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Clinical Research

• Current NHGRI Clinical Studies
  A list of the clinical studies recruiting participants, organized by condition.
  
  
• NHGRI Institutional Review Board (IRB)
  Forms, guidelines, policies and IRB training.
  
  
• Clinical Research FAQ
  Information for patients and families.
  
  
• Office of the Clinical Director

Program Overview

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 poised to inaugurate 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, or are thought to play, a significant role. Among the disorders currently under study by intramural physician-scientists are: Parkinson's disease; Attention Deficit Hyperactivity Disorder (ADHD); various disorders of the immune system; a group of congenital disorders of glycosylation (CDG); a common brain malformation called holoprosencephaly (HPE); Pallister-Hall Syndrome, a rare disorder characterized by multiple birth defects;  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; autosomal recessive polycystic kidney disease and congenital hepatic fibrosis, a serious genetic kidney and liver ailment; 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 a very large Italian-American family with ancestral roots in a small village in southern Italy, 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. Another study attempts to identify the genetic basis for the Gray Platelet Syndrome, a bleeding disorder in Turkey.

Analyzing data gathered in such studies, NHGRI clinical researchers have played key roles in a number of important gene discoveries, including the identification of a gene that causes familial Parkinson's disease; the gene for X-linked severe combined immunodeficiency (XSCID); and a gene responsible for one-quarter of the familial cases of HPE.

However, NHGRI's clinical research endeavors extend far beyond searches for disease genes. Among the many projects underway in intramural clinical research labs are:

• Microarray expression analysis and other analyses aimed at testing the hypothesis that Proteus Syndrome, a disorder of postnatal tissue overgrowth, is caused by somatic mosaicism.
  
  
• Efforts to use knockout technology to create a mouse model of familial Parkinson's disease.
  
  
• Creation of a knock-in mouse having hereditary inclusion body myopathy.
  
  
• Development of gene therapy approaches for XSCID.
  
  
• Conduct of clinical trials of an antifibrotic agent to counter the fatal pulmonary disease of HPS.
  
  
• Determination of the safety and efficacy of a drug called nitisinone in the treatment of alkaptonuria.
  
  
• Pursuit of therapies to prevent progression of the muscle wasting and weakness in hereditary inclusion body myopathy.

An exciting new initiative of the Office of the Clinical Director involves a joint program with the Office of Rare Diseases to investigate patients with complicated, unknown disorders. This venue should provide opportunities for selected individuals to receive state-of-the-art diagnostic evaluation, for clinical investigators to address the causes of new diseases, and for young geneticists to acquire skills in clinical investigation.

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 analytical study of the implications of direct-to-consumer advertising for genetic testing, an empirical study to determine what patients understand about the storage and use of DNA for future research, and follow up analysis on the impact of predictive testing for the inherited colon cancer genetic syndrome, hereditary non-polyposis colon cancer or HNPCC.

Given its ambitious goal of building on advances in genomics to improve human health, NHGRI remains strongly committed to the future growth and development of the intramural clinical research program. Its dynamic new research initiative, "Therapeutics in Genetics and Molecular Medicine," coincides with an expansion of the NHGRI clinical faculty, as well as the construction of the Mark O. Hatfield Building, which will combine a new, state-of-the-art medical facility with the current NIH Clinical Center. 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.

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Last Updated: June 2004