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1986-1990B.S. Rensselaer Polytechnic Institute
1990-1995Ph.D. University of Pennsylvania
1995-1997Postdoctoral Research Associate Massachusetts Institute of Technology
1997-1999Postdoctoral Research Fellow Massachusetts Institute of Technology
1999-2005Vice President & Chief Scientific OfficerPolyGenyx, Inc.
2003-2008Assistant Professor of Neurology Harvard Medical School, MGH
2003-Director of ALS Genetics Day Neuromuscular Research Laboratory
2008-Associate Professor of Neurology UMASSMedical School
Genetics of Familial and Sporadic ALS
Amyotrophic lateral sclerosis (ALS) is a uniformly lethal, age-dependent neurodegenerative disorder with a typical survival of 2 to 5 years. Our laboratory is focused on using high-throughput genomic technologies to identify the genes involved in the development of sporadic and familial ALS. Most recently, our lab has utilized high-density SNP arrays to analyze over 300,000 DNA polymorphisms within ~4,000 subjects to test for their association to sporadic ALS. Through our efforts, we have identified KIFAP3, a kinesin II complex member responsible for fast anterograde axonal transport, as a modifier of survival in sporadic ALS. Homozygotes for the favorable allele located in the promoter region of KIFAP3 display a survival advantage of 14.0 months, a substantial increment (~30%) in this disease. Currently, our efforts are focused on understanding how KIFAP3 influences survival and how we can use this information to aid in the development of strategies to extend the lifespan of ALS patients.
- Characterization of gene which influences survival in sporadic ALS patients.
- Characterization of 2 newly identified familial ALS genes.
- Development of a new mouse model for familial ALS.
- Positional cloning of novel genes which cause familial ALS.
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