Home » Dr. Alison Bertuch awarded $100k for exploration of bone marrow failure-associated condition
June 23, 2010 – Texas Children’s Cancer Center
by Corbin B.P. Dodge
Dr. Alison Bertuch, of the Cancer Genetics and Genomics Program, was awarded a Department of Defense Congressionally Directed Medical Research Program Exploration-Hypothesis Award in the area of Bone Marrow Failure. The award was given for her research project entitled “Molecular mechanism of bone marrow failure associated with TINF2 mutations.”
Dr. Bertuch’s research focuses on dyskeratosis congenita, a rare disorder that puts patients at risk for bone marrow failure, as well as cancer. By age 30, most patients diagnosed with this condition develop bone marrow failure, a condition in which the bone marrow is unable to produce significant quantities of blood cells leading to the need for blood transfusions and placing patients at risk for life threatening infections. The condition occurs because of an inherited gene alteration that is important in the normal maintenance of chromosome ends, known as telomeres.
All patients with dyskeratosis congenita have abnormally short telomeres throughout the body, which is particularly problematic for bone marrow cells. One gene, TINF2, has been found to be altered in patients with dyskeratosis congenita. The award will allow Dr. Bertuch to pursue studies that will determine why TINF2 mutations lead to short telomeres, perhaps opening the door to treatment and ultimately prevention of associated bone marrow failure and cancer.