Empowering Population-Based Human Genetic Discovery

The Genomic Medicine Discussion Group provides a forum for New York area researchers to investigate topics related to genomics and genomic medicine in an interdisciplinary fashion across therapeutic areas. Meetings of this group are organized around the general theme of making connections between basic and clinical aspects of the genomics revolution. Meetings are focused on a particular theme as it relates to the field of genomic medicine, with special attention to the application of genomic approaches to disease diagnosis, staging, prognosis, treatment, and monitoring.

5:00 - 7:00 Presentations

Frank Middleton, SUNY Upstate Medical University: "When the Chips are Up: High-throughput Genetic and Genomic Studies of Neuropsychiatric Disease."

Jurg Ott, The Rockefeller University: "Genome-wide Disease Gene Mapping by Association Analysis."

Frank Middleton, "When the Chips are Up: High-throughput Genetic and Genomic Studies of Neuropsychiatric Disease."
Few whole genome linkage or candidate gene studies have yielded results about major mental disorders that generalize to different populations. One factor contributing to this has been the previously limited power of the techniques. Recent advances in microarray-based genetic technologies make it possible to rapidly perform whole genome linkage, family-based association, case-control association, and copy number analyses in the same subjects on whom gene expression is assessed in peripheral tissues. Each of these approaches has its own strengths and weaknesses. Taken together, however, results from an integrated analysis can implicate promising novel candidate genes, particularly when this has been implemented in homogeneous study populations. Here, an overview of the approach that we have used on DNA and RNA samples from subjects with schizophrenia, bipolar disorder, and psychosis living in a Portuguese population isolate will be presented.

Jurg Ott, "Genome-wide Disease Gene Mapping by Association Analysis."
After discussing the rationale for, and principle of, genetic association analysis, I will outline the different steps that are currently taken for genome-wide association analysis. Problem areas to be discussed are: multiple testing, false discovery rate, different forms of heterogeneity, and multi-locus approaches (gene-gene interactions). I will mention a recent success story (age-related macular degeneration) and conclude with important considerations for gene-environment interactions.