Featured Studies

Fanconi anemia is a rare genetic disorder that mostly affects children and often leads to bone marrow failure. Researchers at the National Institutes of Health (NIH) are investigating a new drug to improve blood counts in individuals diagnosed with Fanconi anemia. Eltrombopag is an oral drug that mimics a special protein that causes the body to make more platelets. Currently eltrombopag is used to treat low platelet counts in patients with hepatitis C and chronic immune thrombocytopenic purpura (ITP). Researchers are evaluating if this new drug will improve blood cell counts in individuals diagnosed with Fanconi anemia.

Researchers at National Institutes of Health (NIH) Clinical Center are recruiting healthy adults, ages 18-50, to undergo an initial assessment to determine if they will qualify for future malaria studies. These future studies may involve evaluation of experimental medications, vaccines, and vaccine strategies to prevent malaria.

Genetic testing sometimes tells a person or family unexpected results. These genetic test results are unrelated to the initial reason why the testing was done. These kinds of results are called "secondary results" or "secondary findings." If you or a member of your family have been given a secondary result please consider partnering with us on this research.

The National Institutes of Health (NIH) seeks healthy volunteers for a study about blood vessel stiffness. In this study, healthy volunteers will be compared with patients with rare genetic conditions that affect the blood vessels. All study-related procedures are provided at no cost and compensation is provided.

Researchers at the National Institutes of Health (NIH) seek patients with Williams Syndrome (WS) or Supravalvular Aortic Stenosis (SVAS) to join a research study. Researchers want to see how blood vessel elasticity and stiffness affect the heart, gut, kidneys, and the brain in people with Williams Syndrome.