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The IBMFS Study

Inherited bone marrow failure syndromes (IBMFS) are a group of rare disorders of the bone marrow that can result in a number of medical conditions, including a high risk of cancer. Over the past several decades, researchers and clinicians at the National Cancer Institute (NCI) have studied individuals with these syndromes in order to better understand their genetic causes and medical complications. Our overall goal is to improve the health care for persons with these disorders.

The NCI IBMFS Cohort Study enrolls families that have at least one member with an IBMFS. The study includes individuals with the IBMFS, their first-degree relatives (brothers, sisters, parents, and children), as well as other relatives when appropriate. There have been many medical advances as a result of the study, including the identification of several new genetic causes of IBMFS.

Our Goal

To reach a better understanding of how cancers develop in persons with an Inherited Bone Marrow Failure Syndrome, so that we may improve the health care that can be offered to persons with these disorders.

About the Study

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.