People often ask , an associate professor of and the region鈥檚 leading expert on a rare childhood disease called Fanconi anemia, why he studies a disease that affects so few people. 鈥淔irst and foremost,鈥� he said, 鈥渢here is no cure or effective treatments for it. So a greater understanding of the molecular basis of Fanconi anemia is critical to address this need.鈥�
In addition, Professor Howlett said there are countless examples of how the study of the disease has greatly benefited the general population. The first umbilical cord blood transplant, for example, was performed with a Fanconi anemia patient. Bone marrow transplants have become much safer and more effective because of studies with Fanconi anemia patients. And new breast and ovarian cancer genes have been discovered as a result of studies on the molecular biology of Fanconi anemia.
His current research is another example of the broader impacts of Fanconi anemia studies. He recently discovered an important molecular link between the disease and a major cancer gene called PTEN.
鈥淏efore this work, Fanconi anemia and PTEN weren鈥檛 even on the same radar,鈥� Professor Howlett said. 鈥淭his is really important to understanding how this disease arises and what its molecular underpinnings are.鈥�
His research is equally important to cancer patients who do not have Fanconi anemia. He said that since his study found that cells missing PTEN are highly sensitive to a class of drugs widely used in cancer chemotherapy called DNA crosslinking agents, it should be possible to predict whether a particular cancer patient will respond to these chemotherapy drugs by conducting a simple DNA test.
鈥淲e can now predict that if a patient has cancer associated with mutations in PTEN, then it is likely that the cancer will be sensitive to DNA crosslinking agents,鈥� he said. 鈥淭his could lead to improved outcomes for patients with certain types of PTEN mutations