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National Human Genome Research Institute (NHGRI)

Scientific Director: Daniel L. Kastner, M.D., Ph.D.

NHGRI’s Division of Intramural Research plans and conducts a broad program of laboratory and clinical research to translate genomic and genetic research into a greater understanding of human genetic disease, and to develop better methods for the detection, prevention, and treatment of heritable and genetic disorders.

Founded in 1993, NHGRI’s intramural research program carries out basic genomic research involving cell and animal model systems, as well as clinical research involving human subjects, such as gene therapy trials and the Undiagnosed Diseases Program, in which individuals who have mysterious illnesses come to the NIH in hopes of a diagnosis and treatment.

In its short existence, the program has made many seminal contributions to the fields of genetics and genomics. Highlights of accomplishments in recent years include:

  • Identification of the genes responsible for numerous human genetic diseases
  • Development of new paradigms for mapping, sequencing, and interpreting the human and other vertebrate genomes
  • Development and application of DNA microarray technologies for large-scale analyses of gene expression
  • Creation of innovative computational tools for analyzing large quantities of genomic data
  • Generation of animal models critical to the study of human inherited disorders
  • Design of novel approaches for diagnosing and treating genetic diseases

Learn more about the National Human Genome Research Institute’s Division of Intramural Research.