July 16, 2020
Here are our introductory comments:
We are very excited to continue the SRF webinar series. The goals of the series are:
- getting you closer to the science
- making you aware of the research that is been done and the opportunities to participate
- and empowering your communications with clinicians
Today’s speaker is Dr. Helen Bateup she is Assistant Professor of Neurobiology at UC Berkeley where she has been conducting research since 2013. She earned her PhD at Rockefeller University and her post-graduate work was done at Harvard Medical School with Dr. Bernardo Sabatini. It was there while she was studying the mTOR signaling pathway that she became interested in genetic mutations which affect synaptic function and plasticity and lead to the phenotypes of various neurodevelopmental disorders and ASD.
Her lab describes one of its main focuses as “Understanding the molecular machinery that allows neurons to both be dynamic and maintain balance”. This is done through a multi-faceted approach which includes characterization of both mouse and human cells in various diseases.
One of the main disorders she has studied so far is Tuberous Sclerosis Complex and her lab has identified some synaptic changes which they believe may lead to the rigidity in behavior and learning that are seen in TSC mouse models. She also was part of a collaboration which used CRISPR technologies to create organoids which allowed her team to better replicate certain aspects of TSC which the mouse models were not able to.
Over the years she became interested in SynGAP1 mutations as their connection to autism spectrum disorders became apparent. The preliminary work in her lab suggests that loss of Syngap1 from striatal neurons is likely to alter their function and may be an important contributor to the repetitive, restricted and inflexible behaviors observed in SYNGAP1 disorder.
My greatest memory of her was the several hours she spent with us when we visited her lab last year – she described the activities and experiments she was doing with the mice with so much care and attention, and was keenly interested in whether and what analogous behaviors we also saw in our Syngapians.