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Scientist Receives $3.5 Million to Study Genetics of ALS

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October 12, 2004

Teepu Siddique, M.D., Abbott Labs Duane and Susan Burnham Research Professor at the Feinberg School, has received a $3.5 million grant from the National Institute of Neurological Disorders and Stroke to study the genetics of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease.

ALS is a progressive neurodegenerative disease that usually is fatal within six years of onset of symptoms. The cause of ALS is multifactorial, and there is no known treatment to slow, stop or reverse the disease.

The research project will use discoveries by the Human Genome Project and new, high-throughput genotyping instrumentation to analyze Northwestern's massive collection of cell lines from ALS patients.

The project seeks to correlate genetic predisposition to ALS with environmental factors that may influence the disease. The relevance of any hypothesis of cause can also be tested by testing its genetic underpinning.

Identification of the cause(s) of ALS is essential before rational therapy can be applied. This project will attempt to create molecular targets for such a therapy.

Siddique’s laboratory, in close collaboration with colleagues at other institutions, has greatly extended the genetic knowledge of familial (inherited) ALS by identifying the first and second ALS genes  (the SOD1 gene in 1993 and the ALSIN gene in 2001), in addition to identifying loci on chromosomes  9, 15, 16, and X.

The laboratory also made the first successful genetic model of ALS.

In spite of these discoveries, the cause of 90 percent of ALS cases (sporadic or non-familial) is unknown.

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