April 1, 1996
Fanconi Anemia research advanced by development of new animal model
TORONTO - A team of scientists, led by Manuel Buchwald, O.C., PhD., of The Hospital for Sick Children, has successfully reproduced characteristics of Fanconi Anemia in mice, giving them a living model in which to test novel treatments - including gene therapy - for this rare but devastating inherited blood disorder. Their research is published in the April 1, 1996 issue of Nature Genetics.
In 1992, Dr. Buchwald's research group cloned the gene responsible for one form of Fanconi Anemia. Since then they have focused their research efforts on gaining a better understanding of the parameters and biochemical properties of the disease. However, they have been hampered by the lack of a living organism in which to study Fanconi Anemia.
The mouse model developed by Dr. Buchwald and his colleagues share several important characteristics of the human disease, including decreased fertility and an increased sensitivity to chemotherapy drugs such as mitomycin C, leading to chromosomal aberrations such as breaks and exchanges.
The most severe effect of Fanconi Anemia is the failure of the bone marrow, which is responsible for making all the body's blood cells. In Fanconi Anemia, the bone marrow slowly stops making red blood cells, white blood cells, and platelets. This has a devastating effect on patients. A reduction in red blood cells leaves patients anemic and weak; without platelets, they suffer from severe bleeding as their blood does not clot properly; and the absence of white blood cells means that patients cannot fight infection.
Patients with Fanconi Anemia are also at increased risk for leukemia and rarely survive to adulthood.
Fanconi Anemia is rare - the incidence is one in 350,000. Doctors at SickKids see only one patient every few years. Patients are treated with transfusions and male hormones, but the only cure is a bone marrow transplant. Transplantation is more difficult and riskier than for other blood diseases, as Fanconi Anemia patients are particularly sensitive to chemotherapy drugs needed prior to transplantation. Sometimes the chemotherapy itself is fatal.
Dr. Buchwald is a professor of Molecular and Medical Genetics at the University of Toronto. The Hospital for Sick Children is a health care, teaching and research centre dedicated exclusively to children, affiliated with the University of Toronto.
Dr. Buchwald's research was supported by the Network of Centres of Excellence and the National Cancer Institute.
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