Newsbriefs ----------------------------- Researchers identify genetic cause of cancer syndrome ----------------------------- Researchers in the Medical Institutions departments of Pathology and Oncology have identified the genetic cause of Turcot's syndrome, a condition characterized by brain and colon tumors. Their findings were reported in the March 30 issue of "The New England Journal of Medicine." This new genetic evidence linking the two cancers may mean that Turcot's syndrome is much more common than the medical literature indicates, the researchers said. "These findings have given us completely new information about the causes of brain tumors and allow for diagnosis of the syndrome based on molecular genetic characterization," said Stanley Hamilton, professor of pathology and oncology who directed the study. The research team studied 14 families with a history of both colon and brain tumors who were enrolled in hereditary colon cancer registries at Johns Hopkins and Mount Sinai Hospital in Toronto. The investigators found mutations in two types of genes known to cause inherited forms of colon cancer. Ten of the families had alterations of the APC gene, a tumor suppressor gene associated with familial adenomatous polyposis, or FAP, a disease in which those affected get hundreds to thousands of small benign colon and rectal tumors that eventually progress to cancer. In two additional families, the scientists identified a mutation of one of two mismatch repair genes, hMLH1 or hPMS2. Mismatch repair genes act as proofreaders, looking for mistakes in the DNA copying process and correcting them. People who inherit a defective mismatch repair gene tend to be mutation-prone and are at higher risk of developing cancer. The Johns Hopkins team collaborated with a researcher from Hotel-Dieu de Qu‚bec hospital to obtain the pathology slides containing tissue samples from the first documented cases, which date back to 1959. When they examined DNA from the tissue samples, they found evidence of mutation of a mismatch repair gene in both the brain and colon tumors. "Historically, Turcot's syndrome has denoted the presence of colon polyposis and a primary tumor of the central nervous system," Dr. Hamilton said. "This new evidence indicates that people who inherit defective copies of either of the two types of genes are predisposed to colon and brain cancer, and potentially a number of other cancers as well." A simple blood test which could be used in high-risk families to identify family members with the genetic alterations is under development. Those who test positive can be followed closely by their physicians and take advantage of available screening tests. ------------------------------- Rwanda's gradual recovery improving public health effort ------------------------------- As the embattled tiny African nation of Rwanda slowly re-establishes its political and military health after several years of a brutal civil war, its best efforts may be undermined, because of the country's ailing health care system. Gil Burnham, associate professor in the School of Hygiene and Public Health's Department of International Health, has traveled to Rwanda several times within the past year in response to a request for help from that country's health minister. "The situation was a lot better last month than it was when I visited in August to evaluate the public health situation," Dr. Burnham said. "At that time the ministry had a terrible staffing problem. Schools and universities lost most or all of their teachers. And in the area of public health, I'd say all persons with formal doctoral training were either killed or fled the country. About 80 percent of the healthcare workers were killed or left the country because of the war, so there was almost no senior staff left." Dr. Burnham shared his observations at a conference held Wednesday at the School of Public Health, organized by the student-led Health and Human Rights Group. When Dr. Burnham traveled to Rwanda in August, he was struck by the toll the war had taken on every aspect of the country, especially its health care. "[The capital of] Kigali was a decimated ghost town," he said. "The central hospital was heavily damaged by bombings, looters had stripped it not only of medical equipment, but also its plumbing and electrical fixtures. Cholera and dysentery were epidemic, and death rates in refugee camps were unbelievable." During that visit, he provided the ministry with some structure in an effort to help restore some order to the public health system. He was unsure what he would find when he returned seven months later to assess its progress. "I saw many signs of hope in February," he said. "Security in Kigali is now pretty good, so you can actually walk around. There's still no traffic lights, but the electricity is mostly on and there's generally running water. And it's incredibly clean." Dr. Burnham is relieved to see that 85 percent of the health centers are functioning, as are 30 of 31 district hospitals. "Staffing is only about half of what it was before the war, and much of the help is being provided by workers from Uganda, Burundi and Zaire. "But still major hospitals and teaching institutions are functioning poorly, and there is a desperate need for teachers and clinical specialists." Even though Dr. Burnham understands that his contribution to the public health situation will not resolve all the problems, he believes that he can provide an essential infrastructure that will better support improvements. "They have no training in collecting, analyzing and using health care information," he said. "We are teaching them basic statistics and management skills, how to conduct manpower planning and other health-related assessments." Where his efforts will lead is still unclear, Dr. Burnham said, but Hopkins' public health students could play a significant role in returning health care services to Rwanda.
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