Place: 4274 Chamberlin (refreshments will be served)
Speaker: Marsha Mailick, Waisman Center
Abstract: This talk will begin with the gene that causes a rare genetic 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 chromosome. This gene is critically important for brain development and functioning throughout the lifespan. Although it is rare, Fragile X Syndrome 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 gene have been implicated in other health conditions. These gene variants are familial, passed from one generation to the next, and thus there are family-wide implications for reproductive decision making and parenting. However, until recently, the data were all derived from clinical patient groups, and thus, there is considerable ascertainment bias and uncertainty in generalizing to the full population.
For the past decade, we have been studying the full range of FMR1 gene variations in both clinical patient groups and through population survey data. By cross-referencing data from both sources, we have been able to advance understanding of the impacts of what previously were believed to be normal variants of FMR1, but which actually have consequences for human health. In this era of precision or personalized medicine, understanding the implications of such variants can inform the health care we receive, but only if such variants are screened for and understood.