August 3, 2020
Here are our introductory comments:
Dr. Heller gave a talk about how Epigenetics research will benefit the SynGAP community on Monday, August 3rd, 9 am Pacific. Learn more about Dr. Heller’s partnership with SRF here.
Dr. Elizabeth Heller studies epigenetic reprogramming and its role in neuropsychiatric and developmental disease at UPenn. Dr. Heller also has a niece, Ruby, who was diagnosed with SYNGAP1. Dr. Heller’s lab is now focused on defining the epigenetic mechanisms causal to SYNGAP1 expression. They are investigating this by analyzing the epigenome of the SYNGAP1 gene to learn how the body turns this gene on and off. In the future, this information could be used to develop therapeutics that turn on only the “good” copy of SYNGAP1. To carry out their research, they started by examining published data from the mouse and human genome, targeting the promoter region of the SYNGAP1 gene which is present in all SYNGAP1 children. Next, they are applying epigenetic editing using the CRISPR/dCas9 approach to test the causal relevance of different epigenetic modifications. Once they develop the correct tools to correctly “edit” the SYNGAP1 gene, they will use the tools in adult mouse models at different stages of life and measure gene expression over long time periods. Eventually, it is their hope to create therapeutics with epigenetic editing techniques that can be used in humans with SYNGAP1 to rescue SYNGAP1 haploinsufficiency.