Bone marrow failure occurs in individuals who produce an insufficient amount of blood cells: red blood cells, which carry oxygen throughout the body; white blood cells, which help fighting off germs and infections that enter the body; and platelets, which clot and help stopping the blood flow when a wound occurs. Bone marrow failure syndromes include a group of disorders than can be either inherited or acquired. The inherited bone marrow failure syndromes include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and other genetic disorders. The most common cause of acquired bone marrow failure is aplastic anemia.
Feinstein Institute researchers are focusing on two of the most common inherited bone marrow failure syndromes: Diamond Blackfan anemia and Shwachman-Diamond syndrome. Their work is uncovering the genetics and functional characteristics of these diseases, and aims at advancing their diagnosis and treatment.