July 4, 2001
SickKids researchers identify function of protein for a form of Fanconi Anemia
Scientists at The Hospital for Sick Children (SickKids) and the University of Toronto have discovered the function of the protein for a form of Fanconi Anemia. This discovery provides a clue for the development of treatments for this disease and explains a cellular mechanism that was not previously known. This research is published in the July issue of the scientific journal Nature Medicine.
“We have discovered that the Fanconi C protein plays a role in the intracellular management of oxygen and its byproducts. In our mouse model, we will now try drugs that will alter the intracellular oxygen environment to see if this could work as a possible form of treatment for Fanconi Anemia,” said Dr. Manuel Buchwald, the study’s principal investigator, director of the SickKids Research Institute and a professor of Molecular and Medical Genetics at the University of Toronto. “Since oxygen plays such a vital role in all cellular activity, this discovery will also have implications for the study of other diseases, such as leukemia.”
The lead author of the study was Robert Cumming, a University of Toronto graduate student supervised by Dr. Buchwald. Dr. Cumming is now a postdoctoral fellow at the Salk Institute in San Diego. This research was supported by the Canadian Institutes of Health Research and The Hospital for Sick Children Foundation.
Fanconi Anemia (FA) is an inherited disease characterized by bone marrow failure, congenital malformations, and a high susceptibility to leukemia. It is a rare disease — the incidence is one in 350,000. Many children with Fanconi Anemia do not survive to adulthood. Patients are treated with transfusions and male hormones, but the only cure for the blood aspects of the disease 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.
“Breakthroughs in medical research do not happen overnight,” added Dr. Buchwald, who is also holder of the Lombard Insurance Chair in Paediatric Research at The Hospital for Sick Children. “When we identified the Fanconi Anemia genes, it had immediate implications for diagnosis. Identifying the functions of the FA proteins, which is key to the development of future medical interventions, has been very difficult as they are unlike other proteins with known functions.”
There are at least seven different types of Fanconi Anemia (groups A to G). Dr. Buchwald’s research group identified the gene responsible for Fanconi Anemia (group C) in 1992. They have since identified four other Fanconi Anemia genes and they developed a mouse model to study the disease. This research has been supported by the Canadian Institutes of Health Research and its predecessor, the Medical Research Council of Canada, since the 1970s. More recently, it has also been supported by the National Cancer Institute of Canada.
“Research truly is the only way to improve outcomes for people with Fanconi Anemia,” said Lorne Shelson, president of Fanconi Canada and father of an eight-year-old son who has the disease.“Dr. Buchwald’s study opens the door to an entirely novel approach to treating Fanconi Anemia where traditional methods have failed.”
Fanconi Canada is a registered charity whose mission is to fund research in Canada into an effective treatment and, ultimately, a cure for Fanconi Anemia and to serve as a support network for affected Canadian families. Fanconi Canada recently partnered with the Canadian Institutes of Health Research to fund a postdoctoral fellowship dedicated to Fanconi Anemia research. This fellowship is held by Dr. Sylvie Pasco in Dr. Buchwald’s lab, who will be further investigating the implications of this research.
For more information about The Hospital for Sick Children, please visit www.sickkids.ca. For further information about Fanconi Canada, please visit www.fanconicanada.org.
For more information, please contact:
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