Episode 12: Loss of Function & Autism
What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular mechanisms underpinning autism? To help answer these questions we talk to A Prof Kevin Bender from UCSF Center for Integrative Neuroscience.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
Assistant Professor Kevin Bender head up the Bender Lab team at University of California, San Francisco Center for Integrative Neuroscience. His recent research interests have included loss of function SCN2A mutations and the cellular mechanisms via which these mutations can result in autism.
You can follow A Prof Bender on Twitter: @NeuroBender
Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.