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GEN’s editor in chief, John Sterling, interviews life science academic and biotech industry leaders on important research, technology, and trends. These podcasts will keep you informed with all the important details you need.
Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease by analyzing DNA from just a few individuals. The power and speed of the innovative bioinformatics tool marks a step toward personalized genomics—discovering causative mutations in individual patients.
During this week’s podcast, Dr. Gholson Lyon, team leader, discusses the specific nature of the research project and what the team was able to demonstrate. He explores the use of the VAAST software system and reveals the results his group achieved in studies with individuals suffering from Ogden syndrome. Dr. Lyon explains the advantages of the VAAST technique versus other methods and talks about additional research that his team has planned to make VAAST even more effective for personal genomics applications.
Gholson J. Lyon, M.D., Ph.D., is a research scientist at the Center for Applied Genomics at The Children’s Hospital of Philadelphia and an adjunct assistant professor of psychiatry at NYU School of Medicine. He is a board-certified child, adolescent, and adult psychiatrist. Dr. Lyon earned an M.Phil. in Genetics, working with Nobel laureate Martin Evans in Cambridge, U.K., then received a Ph.D. and M.D. through the combined Cornell/Sloan-Kettering/Rockefeller University training program. He has published peer-reviewed papers in biochemistry, genetics, pharmacology, and molecular biology. In addition to his research interest in neuropsychiatric illnesses, Dr. Lyon is focusing on the discovery of rare heretofore undiscovered Mendelian diseases.