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Search Results to Andrew Paterson

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keywords Genetics, Medical
keywords Genetics, Human
overview Much of biomedical research focuses on the identification of etiological factors for common disease. Human genetics provides an unparalleled opportunity to identify causal factors since the DNA sequence stays mostly the same in every cell of humans as they age, and reverse causality is unlikely. Based on the sequence of the human genome, recent advances in technologies have allowed high-throughput genotyping and sequencing to capture the majority of variation in the human genome. This provides an unparalleled opportunity to identify causal genes, pathways and mechanisms for common human diseases and traits. Such knowledge is important since it provides novel opportunities for improvements in screening, prevention and possibly treatments of such diseases, ultimately aimed at reducing the incidence and severity of numerous common diseases. Although the direct benefit may take many years to realise, foundational discoveries from human genetics offer great opportunity for the rationale development of strategies with impact. The main focus of my research is understanding the genetic bases of common complex disease, specifically type 1 diabetes and its long term complications. Approximately 1:300 Canadians develop type 1 diabetes during their lifetime, and decades-long hyperglycemia is associated with reduced life expectancy due to complications including hypoglycemia, nephropathy and cardiovascular disease. In addition, although the mechanisms that result in type 2 diabetes appear to be mostly distinct from type 1 diabetes, the complications of nephropathy and cardiovascular disease are also present in people with type 2 diabetes, which has a much higher population prevalence, with 8.3% of the population of Ontario having diabetes in 2010. It is likely that some of the same genetic risk factors for these long-term complications of type 2 diabetes are shared with those for the same complication of type 1 diabetes. Part of my time is spent as a co-director of the Statistical Analysis Facility of The Center for Applied Genomics at SickKids (www.tcag.ca/facilities/statisticalAnalysis.html). Work from this has resulted in a numerous publications, describing the mapping and cloning of a number of single gene diseases.

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  • Genetics Human