Mission Statement
The Human Genetics Resource Center
Neurogenetics Group Personnel

Mission Statement

Genetic methodologies are having a rapidly increasingly impact on studies of the normal and diseased nervous system. To date, more than 200 genes have been identified that cause or contribute to neurological disorders. It is essential that neuroscientists exploit the power of modern molecular genetics and use the information becoming available from sequencing of the human genome. The Neurogenetics Cluster will:

Identifying genes that, when mutated, cause neurological disorders will permit improved diagnosis and ultimately treatment of these disorders. We will coordinate the collection of family data required to identify disease genes, and encourage exploratory research that utilizes this data for gene discovery.

Once disease genes are identified, the challenge is to determine how mutations in these genes lead to disease. We will encourage the development of animal models for studying pathways of gene function, investigating how these pathways are disrupted by genetic alterations, and ultimately for testing therapeutic interventions.

The nervous system presents unique problems for gene therapy and the development of drugs targeted to specific gene products. Among the most pressing are introducing genes across the blood-brain barrier, targeting gene expression to specific brain regions, and promoting sustained gene expression. We will coordinate research in these areas, and promote the identification of molecular targets for pharmacological intervention.

It is critical that recent advances in genetic technology be made widely available to the neuroscientific community. We will promote the development of gene expression maps of the brain, novel mutagenesis and phenotyping strategies, functional genomic methodologies, and more powerful techniques for linkage analysis of multigenic diseases.

Increased knowledge of the genetic basis of neural development and function will provide a foundation for progress in all the areas described above. We will foster research involving the genetic mechanisms that control neural development, including pattern formation, cell migration, axon guidance, and related processes. We will also promote the investigation of the genetic underpinnings of behavior and cognition, including sleep, learning, memory, and emotion.

The Human Genetics Resource Center: DNA and Cell Line Repository
The NINDS Human Genetics Resource Center at the Coriell Institute is a growing bank for human cells, DNA samples, clinical data, and information sources, to accelerate research on genetics of disorders of the nervous system. Its mission is to provide genetics support for scientists investigating pathogenesis in the central and peripheral nervous networks and information support for patients, families, and advocates concerned with the living-side of neurological disease and stroke. More...