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NINDS Grantees Identify NF2 Gene; Gene Protects Against Nervous System Tumors


For release: Thursday, March 11, 1993

Scientists have identified a gene that normally prevents development of tumors and, when damaged, causes an inherited disorder with multiple brain and spinal cord tumors called neurofibromatosis type 2 (NF2). Their results appear in the March 12 issue of Cell *.

"Right off the bat, this advance will improve diagnosis for NF2 patients. With further research, this discovery will help scientists uncover the biological basis of this disorder and should lead to the development of specific treatments," said Philip Sheridan, M.D., chief of the Developmental Neurology Branch, National Institute of Neurological Disorders and Stroke (NINDS), which partly funded the study. "Furthermore, this discovery offers a valuable clue about the causes of brain and nervous system tumors in the population at large."

Each year, more than 40,000 Americans develop tumors in the brain and spinal cord. NF2, currently treated by managing the tumors as they occur, affects one of every 40,000 children born in the United States.

"Understanding how a faulty NF2 gene leads to excessive cell growth will teach us about the basic biology of tumors in the brain and elsewhere in the body," said NINDS Director Dr. Murray Goldstein. "With such information in hand, scientists may be able to develop new treatments for nervous system tumors, such as drugs to mimic the gene's normal function."

The current study was conducted by NINDS grantee Dr. James Gusella at Massachusetts General Hospital, Dr. Roswell Eldridge, M.D., now-retired NINDS scientist, and eighteen other collaborators.

The NINDS, one of the National Institutes of Health located in Bethesda, MD, is the nation's largest supporter of research on the brain and nervous system and a leading agency for the congressionally mandated Decade of the Brain. The NINDS conducts and supports a broad program of basic and clinical neurological investigations on brain and nervous system tumors and on NF2 and other inherited neurological disorders.

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Trofatter, J.A., et. al. "A Novel Moesin-, Ezrin-, Radixin-like Gene is a Candidate for the Neurofibromatosis 2 Tumor Suppressor." Cell (vol. 72, pp 1-20), March 12, 1993.

Last Modified August 7, 2009