In a move expected to enhance the development of therapies for neurofibromatosis type 1, scientists have created an improved mouse model for the disease.

Scientists have identified the second of two genes that cause tuberous sclerosis complex (TSC), a relatively common developmental disorder characterized by a number of abnormalities, including seizures, benign tumors in several organs, and variable emotional and cognitive disabilities. The discovery, to be reported in the August 8, 1997, issue of Science by David Kwiatkowski, M.D., Ph.D., and colleagues at Brigham and Women's Hospital in Boston, was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI), both components of the National Institutes of Health.

Researchers studying learning disabilities associated with neurofibromatosis type 1, or NF1, have traced the problem to excessive activity of a crucial signaling molecule and have successfully reversed the disabilities in mice by giving them an experimental drug. The findings provide hope that these learning problems may one day be treatable in humans.
Fact Sheet

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.

Researchers studying learning disabilities associated with neurofibromatosis type 1, or NF1, have traced the problem to excessive activity of a crucial signaling molecule and have successfully reversed the disabilities in mice by giving them an experimental drug. The findings provide hope that these learning problems may one day be treatable in humans.
Fact Sheet

Scientists have identified the second of two genes that cause tuberous sclerosis complex (TSC), a relatively common developmental disorder characterized by a number of abnormalities, including seizures, benign tumors in several organs, and variable emotional and cognitive disabilities. The discovery, to be reported in the August 8, 1997, issue of Science by David Kwiatkowski, M.D., Ph.D., and colleagues at Brigham and Women's Hospital in Boston, was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI), both components of the National Institutes of Health.

Scientists have identified the genetic mutation that causes Huntington's disease (HD), a fatal, neurodegenerative disorder characterized by progressive physical and mental deterioration. The discovery, to be reported in the March 26 issue of Cell,* is the culmination of a 10-year-long collaboration between investigators in six laboratory groups around the world with major support from the National Institute of Neurological Disorders and Stroke (NINDS).

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.

Using a novel strategy, scientists from the National Institute of Neurological Disorders and Stroke have isolated segments of DNA sequence that uniquely identify more than 2,300 brain genes. The recent data, combined with data from 347 segments sequenced earlier by NINDS scientists, doubles the total number of human genes identified by sequencing, scientists report in the February 13 issue of Nature.

Using a novel strategy, scientists at the National Institute of Neurological Disorders and Stroke (NINDS) have isolated key identifying regions of more than 400 genes that work inside the human brain. The scientists say their work should help identify genetic defects that cause brain disease and speed progress of genetics research.