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Brain tumor study reveals why treatment efforts fail in genetic disorder

January 3, 2005

Drugs used to treat the tumors common in people with a disorder called neurofibromatosis 1 rarely work, and scientists now know why. The chemotherapy drugs target a group of related proteins, call RAS proteins, which are thought to be responsible for these tumors. But researchers at Washington University School of Medicine in St. Louis found that the disease affects only one member of the protein family, and it happens to be the one form of RAS that does not respond well to these particular treatments.

Gene Explains Heart Abnormalities Associated with Neurofibromatosis

December 10, 2002

While type 1 Neurofibromatosis (NF1) is primarily known to cause tumors of the nervous system, scientists were puzzled as to why patients with NF1 are also prone to cardiovascular problems such as hypertension and congenital heart disease. Researchers from the University of Pennsylvania School of Medicine have solved this particular part of the puzzle by showing how the Nf1 gene - which is mutated in those suffering from Neurofibromatosis - is also essential in endothelial cells, the cells that make up blood vessels.



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