As the youngest section in the Department of Medicine, the Section of Genetic Medicine has witnessed remarkable success in its two short years of existence. Highlighted by several high profile recruitments, the Section has realized a tremendous growth in its research programs including the expansion of the Translational Research Initiative (TRIDOM):

Key Recruitments:

• Yves Lussier, MD- an expert in bioinformatics whose long term objective is to facilitate translational biomedical research and therapeutic discovery. Dr. Lussier has developed novel computational technologies that enable a”systems biology” approach to unraveling the molecular underpinnings of diseases and their phenotypes.
• Rick Kittles, Ph.D - an expert in ancestral informative markers and focused on formal evaluation of genetic mechanisms involved in complex diseases, biological and socio-cultural issues related to race and health disparities and the utility of admixture mapping for genes for common traits and disease in African Americans and Hispanic Americans.
• Dan Nicolae, Ph.D-an expert in the genetics of complex diseases, with an emphasis on inflammatory bowel disease and asthma related phenotypes, statistical genetics, and theoretical statistics whose work has included establishing novel statistical genetics tools leading to identification of key genetic associations in asthma and inflammatory bowel disease.
• Andrey Rhetzsky, Ph.D - a world leader in language text mining and the ability to phenotype patients through this approach.
• Minoli Perera, Pharm. D./Ph.D - an expert in pharmacokinetics, clinical pharmacology and human genetics whose research focus involves genetic variation affecting steady-state warfarin levels in African Americans
• Andrew Skol,Ph.D - an expert in developing statistical methods and tools that aid in identifying genetic variants involved in complex human disease.

Research Highlights:

• Expansion of the Translational Research Initiative (TRIDOM) to include ICU patients and patients on DOM inpatients units. Since its inception TRIDOM has collected over 2,000 samples from patients enrolled in this initiative which serves to elucidate the genetic basis of complex diseases.
• Increased Section’s grant portfolio to nearly $3 million in FY 07 with many projects relating to genome-wide association studies funded over the past year which in the next few year, will yield a variety of outstanding discoveries.

Recent Discoveries:

• Analyzed the first genome-wide association study of inflammatory bowel disease and identified a new locus, IL23R, in the disorder (Science 2006, Duerr, Nicolae et al ).
• Developed a multi-locus measure of linkage disequilibrium which led to the first published approach for interrogating untyped variation a major breakthrough for analysis of data from genome-wide association studies.(Genetic Epidemiology 2006, Nicolae)
• Enabled the development of new approaches for identifying genes important in drug cytoxicity through use of novel pharmacogenetic phenotyping in cell lines from the HapMap (Proceedings of the National Academy of Science,USA ,Huang ,Dolan et al., 2007).
• Developed optimal designs for two-stage genome-wide association studies (Nature Genetics 2007, Skol et al).
• Identified highly significant sex-specific linkage of stuttering, a common speech/language disorder, to regions on chromosome 7 (male) and the chromosome 21 signal specific to females. (American Journal of Human Genetics , 2006 Suresh et al)
• Developed an improved algorithm for allele calling with the Affymetrix high-throughput SNP genotyping platform, and summarized the coverage and characteristics of the Affymetric GeneChip Mapping Array 100K SNP set.( Bioinformatics 2006, Nicolae et al; PloS Genetics 2006, Nicolae et al)
• Produced an original computational method for high throughput scalar analysis of phenotypes (SAP) that accurately predicts disease genes (BMC Bioinformatics, Lussier et al)
• Demonstrated several new methods focused on building gene-phenotype databases that are orders of magnitude larger than previously available ones; thus providing a distinctive advantage when predicting disease genes using SAP (Pacific Symposium on Biocomputing 2006, Lussier et al)
• Predicted novel protein domain targets for cancer, a novel pathway for Norrie Disease and proliferative diabetic retinopathy, and shared pathways between cancer and diseases associated with chromosomal orgenomic instability diseases. (Lussier)