Conference on Genotype to Phenotype: Focus on Disease

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DESCRIPTION (provided by applicant): In the post-genome era, the greatest challenge is to unravel the mechanisms by which mutant genes or genes present in abnormal dosage, lead to disease phenotypes or predispositions to common disorders. The combined use of molecular and cell biology with informatics and the generation of animal models is making rapid inroads in disease gene identification and elucidation of the molecular basis of disease. Knowledge of developmental and signaling pathways gained in model organisms is translated into understanding human disease mechanisms. New paradigms need to be developed to handle the wealth of information provided by the genome sequence and by expression profiling strategies to systematically approach the study of common and rare diseases. This symposium will survey the recent advances in understanding the molecular pathogenesis of selected disorders caused by single gene mutations, complex multigenic predispositions or gene dosage imbalances. Leading experts from around the world have been invited to represent these topic areas. Individual sessions will focus on: Using single-gene diseases to understand mechanisms, disease caused by abnormal gene dosage, mechanisms of abnormal neurodevelopment, epigenetic mechanisms in disease, SNP analyses and other approaches to complex disorders. Time on the program has been reserved to accommodate new discoveries and novel approaches to therapy. The major goal of the conference is to bring together clinical scientists, molecular geneticists and computational biologists to focus on the collaborative opportunities between the scientific disciplines. The breadth of the program will broaden the horizons of all participants in one or another area. Trainees at various levels, graduate students, postdocs and clinical fellows, will benefit from discussions of concepts. techniques, resources and approaches as they arise in different disciplines. In scope and orientation, this conference is unlike any others that have been organized recently. It is timely and its impact will likely be high.