Genetic influences on human epilepsy

Published on June 9, 2011 Updated on May 30, 2021   57 min

A selection of talks on Genetics & Epigenetics

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Hi, my name is Dr. Russ Buono, and I'm here today to talk with you about genetic influences on human epilepsy. I'm a research associate professor of neurology at Thomas Jefferson University Hospital in Philadelphia, Pennsylvania, in the USA. I'm also a research affiliate scientist at the Children's Hospital of Philadelphia, and the Associate Chief of Staff for Research at the Veterans Affairs Medical Center in Coatesville, Pennsylvania. Because of my affiliation with the US Government, I need to tell you that my presentation does not represent the official views of the United States Government. Today what I'll do is give you a brief primer on genetics, and then speak specifically about my laboratory and my colleagues' attempts to identify genes related to human epilepsy.
Geneticists like to study families, twins, and persons who've been adopted, to try to provide evidence that genes play a role in disease. We all know that physicians take strong family histories when interviewing their patients, to try and understand if their patients are at risk from genetics that are being passed along in the generations. We know that certain diseases run in families, and that's evidence that there are genes involved. We can compare the rates of disease between monozygotic versus dizygotic twins. As you know, monozygotic twins share 100 percent of their DNA with each other, since they came from the same fertilized egg, whereas dizygotic twins only share about 50 percent of their DNA, just like any siblings. To compare concordance rate of disease between monozygotes and dizygotic twins can provide evidence that genes play a role in disease. Further, children who are adopted away from their biological parents, but still are at high risk for the diseases of those parents, show that genetics is involved in disease.