Genetics and Genomics

View Principal Investigators in Genetics and Genomics

In the 21st century, it is safe to say that genetics and genomics touch every area of biomedical investigation. In the Intramural Research Program (IRP), our research includes genome-wide comparisons, population genetics, and studies of the relationship between phenotype and genotype. We pursue ambitious interdisciplinary projects based on our strengths in basic, clinical, social and behavioral research. This type of work is critical for realizing the benefits of personalized medicine, addressing health disparities, and improving global health.

In addition, the National Human Genome Research Institute is a world leader in translating genomic knowledge into tools and approaches for improving the treatment, prognosis, and prevention of rare and common diseases. The IRP develops genomic, computational, and high-throughput technologies for both its research enterprise and the larger scientific community.

The IRP has a strong track-record of accomplishments in genetics and genomics, including:

  • The first successful treatment of an inherited disease (adenosine deaminase-deficient severe combined immune deficiency) using gene therapy approaches in the United States
  • Identification of gene variants that affect the expression of neuropeptide Y, which regulates diverse functions including appetite, weight, and emotional responses
  • Discovery of genetic and lifestyle factors that contribute to unusual longevity in Sardinian populations
  • Identification of a gene variant that underlies a common kidney disease, focal segmental glomerulosclerosis, and is associated with hypertensive kidney disease
  • Identification of quantitative trait loci (QTL) and candidate genes for susceptibility to inflammatory responses to ozone, sulfate-associated particles, and hyperoxia
  • Localization and characterization of the breast cancer susceptibility gene BRCA1

To learn more about the IRP researchers engaged in genetics and genomics research, visit the any of the interest groups focused on Genetics and Genomics.