Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI).
Below is a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive. If the condition you are looking for is not listed below, other resources are available at: Genetic and Rare Diseases Information Center (GARD)
Clinical research studies initiated and pursued by NHGRI researchers and scientists can be found at: Current NHGRI Clinical Studies
Clinical research studies initiated and pursued by National Instutes of Health (NIH) researchers and scientists can be found at: ClinicalTrials.gov
Sometimes, physicians are unable to put a name to a genetic condition. When this happens, physicians will say that a child or an adult has an undiagnosed rare or genetic condition. To learn more about how to deal with genetic or rare conditions that have no diagnosis, see:
If a condition is not listed above, other resources of information can be found at: Online Health Resources.
Last Reviewed: May 18, 2018
of Genetic Terms
Definitions for genetic terms