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Description
Amyotrophic Lateral Sclerosis (ALS) is an age-associated human
neurodegenerative disorder with prevalence in the US population of 5-8/1 00,000. With
the exception of familial ALS linked to mutations in SOD-! (CuZn Superoxide
dismutase), the cause(s) of ALS remain unknown. Contemporary hypotheses consider
that genetic susceptibility and additional environmental exposures together initiate the
pathophysiological cascade that eventuates in motor neuron degeneration.
The basic hypothesis guiding this research is that there exists an identifiable set of
genetic mutations or polymorphisms, which when coupled to environmental exposures,
will lead to the development of ALS. The results of this study will provide a collection
of DNA from a population of well-characterized patients with ALS and will form an
important national resource for further studies of the etiology of sporadic ALS. Future
approaches may include efforts to identify the presence of Single Nucleotide
Polymorphisms (SNPs) or mutations in genes thought to be important in motor neuron
death and to identify susceptibility genes of relevance that might be implicated in the
process of neurodegeneration.
Status | Finished |
---|---|
Effective start/end date | 8/1/04 → 11/30/09 |
Funding
- National Institute of Neurological Disorders & Stroke
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Projects
- 1 Finished
-
Early Treatment of ALS with Nutrition and NIPPV
Kasarskis, E., Boosalis, M., Clasey, J., Kryscio, R. & Mendiondo, M.
National Institute of Neurological Disorders & Stroke
8/1/04 → 11/30/09
Project: Research project