Benefits of Whole Exome Sequencing re the genetic epilepsies - Prof. Cathy Abbott

Today we are talking to Professor Cathy Abbott; Professor of Mammalian Molecular Genetics at the University of Edinburgh, UK. With her lab team using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology,  Cathy is working to find answers to the rare genetic epilepsy eEF1A; trying to figure out what’s going on with the eEF1A gene when rare mutations of it can cause developmental delay, intellectual disability, and autism (in addition to the epilepsy). Cathy is very involved with patient families and has a website dedicated to communications with them - and anyone interested! **CHECK OUT THE YOUTUBE VIDEO WITH CATHY** * YouTube: https://www.youtube.com/c/TorieRobinson/videos  **CHECK OUT CATHY** * Twitter: https://twitter.com/CathyAbbottLab  **READ ABOUT CATHY’S WORK** * Uni of Edinburgh: https://www.ed.ac.uk/centre-genomic-medicine/research-groups/abbott-group * eEF1A2 Epilepsy: https://eef1a2epilepsy.com/who-we-are * Orcid: https://orcid.org/0000-0001-8794-7173 * Wikipedia: https://en.wikipedia.org/wiki/Catherine_Abbott  **CONNECT WITH TORIE** * Website: https://www.torierobinson.com * Twitter: https://twitter.com/torierobinson10 * LinkedIn: https://www.linkedin.com/torierobinson * Facebook: https://www.facebook.com/TorieRobinsonSpeaker  **CHECK OUT TORIE’S YOUTUBE & BLOG** * YouTube: https://www.youtube.com/c/TorieRobinson * Blog: https://www.torierobinson.com/blog **HIRE TORIE AS A SPEAKER ON EPILEPSY, MENTAL HEALTH, DISABILITY, & DIVERSITY** https://www.torierobinson.com/contact