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Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… the genomes of model organisms such as the dog, which is genetically susceptible to many of the same forms of cancer …