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CANADIAN GENETIC DISEASES NETWORK |
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Toronto, November 1, 1996: An international team of scientists, including a group of researchers led by Dr. Manuel Buchwald, a Network principal investigator and Director of the Research Institute at Hospital for Sick Children (HSC) in Toronto, has discovered the gene which is responsible for more than 60% of Fanconi anemia cases. The rare disease is most severely characterized by the failure of bone marrow which produces all the body's blood cells and affects one in 350,000 people.
In 1992 Dr. Buchwald led a team at Hospital for Sick Children which cloned the first gene known to be responsible for 15% of cases of Fanconi anemia (FAC). Subsequently, in April 1966, Dr. Buchwald's team successfully reproduced characteristics of Fanconi anemia in mice. The latest discovery of the major Fanconi anemia gene (FAA), thought to be one of five different genes which contribute to the disease, now means that scientists have a better chance of understanding the basic defect leading to Fanconia anemia. The results were published in the November issue of the international journal Nature Genetics.
The affects of the disease are devastating, leaving patients weak and prone to severe bleeding due to insufficient blood clotting. Said Dr. Buchwald, "Patients can be treated with transfusions, but the only cure is a bone marrow transplant which is particularly difficult for them because of the sensitivity to chemotherapy which Fanconi anemia produces." He added that patients are also at an increased risk for developing leukemia and many do not survive to adulthood. The cloning of the FAA gene increases the likelihood that eventual gene therapy treatment for the disease will benefit a broader range of Fanconia anemia patients.
Funding and support for Dr. Buchwald's project is provided in part by the Canadian Genetic Diseases Network through the federal government's Networks of Centres of Excellence program and the Medical Research Council of Canada. Said Dr. Buchwald, "The network made important contributions to the research especially through its infrastructure." Dr. Lap-Chee Tsui, Geneticist-in-Chief at the Hospital for Sick Children added "Since the inception of the NCE program in 1990, significant advances have been made in genetics research projects at HSC which are supported by the Canadian Genetic Diseases Network through R&D; funding, core technology facilities, and technology management."
The Network is a consortium of 38 of Canada's leading geneticists and their research teams who are linked with 11 universities, 8 hospitals, and 9 core technology facilities across the country. The Network performs leading-edge research on common genetically transmitted diseases and works with industry partners on methods of detection and treatment of the diseases.
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SCIENTIFIC ADVANCES IN EYE DISEASE & FANCONI ANEMIA
Toronto - April 1, 1996: Research teams led by two members of the Canadian Genetic Diseases Network based at Toronto's Hospital for Sick Children have today announced significant scientific advances in two important healthcare areas.
Dr. Roderick McInnes of the Department of Genetics and Paediatrics at HSC, together with colleagues from the U.S., has identified a major regulatory gene, called Chx10, that is a critical control of retina and eye development in mammals. While Chx10 was discovered by the McInnes lab several years ago, it is these latest findings which demonstrate that Chx10 is essential for the development of a normal eye.
In studies of mice, the team found that a malfunctioning Chx10 gene was responsible for profound retinal abnormalities such as eye size, reduced number of cells in the retina, and the absence or incomplete formation of one of the major retinal cell types, bipolar cells. Recent research has indicated that the network of genes required to form an eye may be very similar across a wide range of species, and indicates that the Chx10 gene may be essential for normal eye development in humans.
The discovery of genes which control retinal development may have long term implications for the treatment of conditions that cause destruction of the human retina and may eventually lead to therapies for these disorders if a healthy retina could be regenerated from a damaged one.
The results of the findings are published in the April issue of Nature Genetics.
A second team of scientists, led by Dr. Manuel Buchwald at the Hospital for Sick Children has successfully reproduced characteristics of Fanconi Anemia in mice. The development of a mouse model of this rare inherited blood disorder (one in 350,000 people) provides researchers with a means of testing novel treatments for the disease, including gene therapy. The team's findings are published in the April issue of Nature Genetics.
Since 1992 when Dr. Buchwald's research group cloned the gene responsible for one form of Fanconi Anemia, the team has worked towards obtaining a better understanding of the parameters and biochemical properties of the disease. The mouse model, which shares several important characteristics of the human disease, significantly assists the ongoing research. The most severe effect of Fanconi Anemia is the failure of the bone marrow to make red and white blood cells, and platelets. The devastating results leave sufferers anemic and weak and prone to severe bleeding due to insufficient blood clotting. Patients are also at increased risk for leukemia and cannot fight infection. They rarely survive to adulthood.
Commented Dr. Michael Hayden, Scientific Director of the Canadian Genetic Diseases Network "I congratulate Dr. McInnes and Dr. Buchwald on these outstanding scientific contributions. These results are an excellent example of the benefits of NCE collaborations and facilities across Canada which are crucial to ongoing research of this calibre."
The Canadian Genetic Diseases Network is a consortium of 38 of Canada's leading geneticists who are linked with 12 universities, 9 hospitals, and 11 core technology facilities across the country. The Network performs leading-edge research on common genetically transmitted diseases and works with industry partners on methods of detection and treatment of the diseases. Core funding for Network programs is provided by the federal Networks of Centres of Excellence Program through the Medical Research Council of Canada.