The NCI IBMFS Cohort Study consists of affected individuals and their immediate families who have an inherited bone marrow failure syndrome (IBMFS)-either one that has been specifically identified and defined, or bone marrow failure that appears to be inherited but has no clear genetic basis.
The study includes people seen and evaluated at the NIH Clinical Center in Bethesda, MD, and many more who participate remotely. Participants provide information and samples of blood, bone marrow, or other tissues, but the majority are not seen by the team at the NIH.
Our study activities:
- collect clinical information from participants and their physicians;
- perform physical examinations and laboratory tests on participants who come to the NIH;
- attempt to identify the specific genetic variant associated with each family's disease;
- perform research studies on blood, bone marrow, and tumors collected from participants;
- monitor participants to determine the rate at which complications develop, so we may identify those complications more precisely;
- advise participants and their physicians on how best to care for affected family members; and
- offer genetic counseling and an opportunity to learn the results of genetic testing.
How can I join?
Individuals with one of the inherited bone marrow failure syndromes and their family members are encouraged to participate.
Phone: 1-800-518-8474 to speak with the referral nurse