BEGIN:VCALENDAR VERSION:2.0 CALSCALE:GREGORIAN PRODID:UW-Madison-Physics-Events BEGIN:VEVENT SEQUENCE:0 UID:UW-Physics-Event-5012 DTSTART:20190129T180500Z DTEND:20190129T190000Z DTSTAMP:20260314T222824Z LAST-MODIFIED:20190118T002603Z LOCATION:4274 Chamberlin (refreshments will be served) SUMMARY:Screening for “normal” genetic variants: Using survey dat a to inform precision medicine\, Chaos & Complex Systems Seminar\, Mar sha Mailick\, Waisman Center DESCRIPTION:This talk will begin with the gene that causes a rare gene tic disease\, and consider how variants in this gene affect all of us. The rare genetic disease is Fragile X Syndrome\, which affects 1 in 5000 births and is caused by a mutation in the FMR1 gene on the X chro mosome. This gene is critically important for brain development and f unctioning throughout the lifespan. Although it is rare\, Fragile X S yndrome is the most common inherited cause of intellectual disability and also the most common genetic cause of autism. Besides the “full mutation” that causes Fragile X Syndrome\, variants in the FMR1 gen e have been implicated in other health conditions. These gene variant s are familial\, passed from one generation to the next\, and thus the re are family-wide implications for reproductive decision making and p arenting. However\, until recently\, the data were all derived from c linical patient groups\, and thus\, there is considerable ascertainmen t bias and uncertainty in generalizing to the full population. \n \nFo r the past decade\, we have been studying the full range of FMR1 gene variations in both clinical patient groups and through population surv ey data. By cross-referencing data from both sources\, we have been a ble to advance understanding of the impacts of what previously were be lieved to be normal variants of FMR1\, but which actually have consequ ences for human health. In this era of precision or personalized medi cine\, understanding the implications of such variants can inform the health care we receive\, but only if such variants are screened for an d understood. \n \n URL:https://www.physics.wisc.edu/events/?id=5012 END:VEVENT END:VCALENDAR