Fanconi Anemia – Progress Towards a Cure
by Jakub Tolar, M.D., Ph.D, John E. Wagner, M.D., and Margaret L. MacMillan, M.D.
University of Minnesota researchers are developing new therapies for patients with Fanconi Anemia who have a high risk of cancer.
For many years, patients with Fanconi anemia have been very high risk transplant patients because of their increased risk of infections and other complications. The University of Minnesota has the world's largest experience in transplants for these patients and is a major center for Fanconi anemia referrals.
Understanding Fanconi Anemia
Fanconi anemia is a rare, inherited disorder that occurs in children. It is characterized by birth defects, increased risk of cancer, and failure of the bone marrow to produce white cells, red cells, and platelets.
The interaction of proteins involved in developing Fanconi anemia is thought to hold the key to unraveling the disease. Two new genes, in addition to the eight known genes responsible for Fanconi anemia, have recently been described. This knowledge is likely to help understand the development of other cancers, including leukemia, breast and ovarian cancer.
Innovative Approaches for Treatment
Researchers at the University of Minnesota are world-renowned experts in Fanconi anemia and are developing innovative approaches to provide safer and more effective treatment.
Drs. MacMillan and Wagner have developed new approaches to transplantation for Fanconi anemia patients. Using these new approaches, survival rates for standard risk Fanconi anemia patients (who have received an unrelated donor transplant) have remarkably improved from 30% to 80%. University of Minnesota researchers are also studying the immune system in Fanconi anemia patients in order to reduce the risk of life threatening infections.
Drs. Tolar and Blazar are conducting laboratory research at the University of Minnesota Cancer Center. They have developed a mouse model of Fanconi anemia. They plan to test strategies for gene therapy using this model in an attempt to cure Fanconi anemia patients before they develop cancer.
An alternative to gene therapy has been developed by Dr. Catherine Verfaillie at the University of Minnesota. She is studying the use of the multipotent adult progenitor cells (MAPC's). Preliminary studies have shown that these cells have the ability to grow into a variety of cell types including blood, liver, intestine, lung, heart and brain. Early results suggest that MAPC's may provide an ideal cell source for patients with Fanconi anemia to correct not only their bone marrow, but all of their cells.
