Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with
Julia Bailey
Adjunct Professor of Epidemiology
Department of Epidemiology
UCLA Fielding School of Public Health
University of California – Los Angeles
Talk Title:
Successful Localization of Genes that Predispose to Epilepsy Using Large Pedigrees
Abstract:
The ability to localize genes that cause diseases has been influenced by methodologies and technologies. After the first RFLP markers were discovered we started doing linkage analyses on large, complex pedigrees that had multiple affected members across several generations. Then SNPs were discovered which were also useful for linkage. When large pedigrees were deemed too difficult to collect many study designs moved towards affected sib pairs, which required more families, but they were easier to locate and recruit. Technology has advanced where we now can generate genetic data on a lot more people, and case-control GWAS has become popular. Next generation sequencing has allowed for the detection of hundreds of thousands of variants in each individual that differs from the ‘norm’ and the new search is focused not on detecting the variation but on determining which of the variation is causal. Using individuals that are affected and related allows for the filtration of variants and makes the search for causality easier. Epilepsy is a complex disorder with both environmental and genetic risk factors. Juvenile Myoclonic Epilepsy (JME) is one of the most common genetic epilepsies. Our consortium has collected hundreds of JME pedigrees, with the number of affecteds per family varying from 1 to 12. These pedigrees are large enough to produce significant linkage signals, which decreases the search space for causal variants. Our methods have been successful in detecting several major genes including EFHC1, and most recently ICK.
Speaker Profile:
Unavailable
Speaker Poster:
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