The Latest in Genetics Epidemiology and Next Generation Genome Sequencing with Sarah Ennis

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Apr 29 2020 43 mins  
Professor Sarah Ennis has been in the field of genetic epidemiology for over 20 years. In this conversation, she explains What a dry lab does specifically in terms of understanding disease through data analysis, The types of information they can pass on to clinicians to help them treat patients, and What the future holds as far as the ability to offer molecular diagnoses. Sarah Ennis runs the Genomic Informatics group at the University of South Hampton, which is a dry lab specializing in next generation sequencing (NGS) data and clinical cohorts. She explains that genetics epidemiology in a dry lab setting means she and her colleagues use data analysis to offer information on disease. Specifically, they look at the genome data of patients to understand how and why the DNA mutates and changes and how and why those changes cause sickness in some cases and none in other cases. She offers listeners more detail about the factors they analyze as they untangle what changes are important and how and why. Along the way she is able to explain the logistics of what scientists really mean whey they say they've sequenced a genome, including the focus on the positive strand of the 5 and 3 prime, and how recessive and dominant disease genes are understood in this context. She then ties this information to next generation sequencing, how it offers a less expensive and more sweeping technique to produce the data. Finally, she discusses her present work on analyzing data on inflammatory bowel disease for children and adults. Inflammatory bowel disease is very hard on children who depend on nutrition for growth. Their analysis allows them to tell clinicians if it's caused by one gene in one patient and another gene in a second patient; therefore, the clinician can specialize the medicines accordingly. For more, see the Genomic Informatics group page at the University of South Hampton: