Short presentation of current research
A new era of genetics research has emerged with the completion of the draft sequence of the human genome. In few other realms in science has there been as much enthusiasm as there has in anticipation of using this information to gain a better understanding of diseases that afflict humankind. A principal approach being undertaken is to examine commonly occurring genetic variation (polymorphism) in order to unearth associations with phenotypes of interest. This is rapidly becoming a reality now as a result of both innovations in genotyping technologies and with vast increases in the known amount of human polymorphism.
The work of our group is oriented around exploring genotype-phenotype relationships in human populations and, at present, our principal projects involve the genotyping of Single Nucleotide Polymorphisms (SNPs) in Alzheimer's Disease and Cardiovascular Disease. Our activities involve extensive use of bioinformatics and statistical tools for SNP and haplotype-based analyses and linkage disequilibrium (LD) map construction.
Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
Hum Mol Genet 2010;19:2068-78.
A survey of ABCA1 sequence variation confirms association with dementia.
Hum Mutat 2009;30:1348-54.
Strategies and issues in the detection of pathway enrichment in genome-wide association studies.
Hum Genet 2009;126:289-301.
Evidence that the gene encoding insulin degrading enzyme influences human lifespan.
Hum Mol Genet 2008;17:2370-8.
Transcriptome-wide assessment of human brain and lymphocyte senescence.
PLoS ONE 2008;3:e3024.