Our laboratory is interested in the development and application of advanced genome technologies, particularly as they apply to our understanding of human evolution and human disease. Areas of special interest include the identification of genetic factors involved in neurogenetic diseases such as alcohol and drug abuse, mental retardation, and cognitive disability, and the use of novel evolutionary genomics approaches to identify genes unique to the human and great ape lineages. Technologies that are used include array-based comparative genomic hybridization (aCGH), high throughput DNA sequencing, gene expression profiling using high density DNA chip technologies, and novel bioinformatics tools for the rapid in silico discovery of genes underlying QTLs for complex traits.
Identification of genes underlying birth defects and mental retardation: Novel genome-wide and gene-based approaches, such as cDNA aCGH, are being used in human studies to search for gene copy number changes related to mental retardation, birth defects and several other human genetic diseases.
Evolutionary genomics of human cognition: To gain insights into the evolutionary genomics of human and great ape lineages, we are using cDNA aCGH to identify lineage-specific gene duplications or losses that have occurred between these lineages. Of particular interest are those human lineage-specific genes that underlie the cognitive abilities unique to the human brain, and how such genes, when defective, lead to cognitive disability.
Alcohol and drug abuse: We are using mouse models of alcohol action to identify genes that underlie alcohol-related processes and pathways, as a first step toward identifying human genes that contribute to predisposition to develop alcoholism and alcohol abuse. High throughput genomic approaches, mentioned above, are also being used to search for gene coding or regulatory region sequence variations that underlie QTL for a number of alcohol- or drug-related phenotypes.