Understanding SynGAP1

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 

We also want to remind you of our next webinar in the series with Dr. Connie Smith-Hicks on “Biomarker Development a path towards clinical trial readiness in SYNGAP1” scheduled later this week, August 5 at 2 pm ET.

The talk today is “What is epigenetics and how can it accelerate therapies for SYNGAP?”

Today’s speaker is Dr. Elizabeth Heller, who is an Assistant Professor of Pharmacology at UPENN (University of Pennsylvania) and also a SYNGAP caregiver. Her story is unique as her inspiration to research SYNGAP is very personal. Her niece Ruby Heller, now 14, was diagnosed with SYNGAP in 2016. At that time her interest as a neuroscientist regained a focus on SYNGAP. She has first-hand knowledge of SYNGAP as a disease. She’s close to her niece and understands how SynGAP turns a family's life upside down. 

Dr. Heller received her PhD in molecular biology from The Rockefeller University. She then studied the epigenetics of drug addiction and depression at the Icahn School of Medicine at Mount Sinai. In 2016 she returned to UPENN as an Assistant Professor. 

The Heller Lab studies the mechanisms by which epigenome remodeling regulates neuronal gene function and behavior. Her lab is uniquely suited to carry out epigenetic research in SYNGAP. It consists of experts across neuroscience and genetics, including chromatin biochemistry, behavioral neuroscience, next-generation sequencing, machine learning, and CRISPR/Cas9-directed epigenetic editing. Her research is supported by membership in the Penn Epigenetics Institute and the Institute for Translational Medicine and Therapeutics.

I want to quote Dr. Heller’s owns words “My niece has given me extraordinary gifts in terms of my personal growth as a caregiver and communicator, and I am ever grateful to be one of her Special People. It is a privilege to enter the Syngap1 research field as a molecular and behavioral neuroscientist”.

We as a group felt privileged and lucky that Dr. Heller is going to dedicate her lab to find what is outside of the gene --of how everything else in the genome affects the regulation of a gene. This is an area of research that hasn’t been touched in SYNGAP that may hold another gigantic clue or clues and can be a big part of the puzzle.

After this brief introduction, I want to let you know a recorded version of this webinar will be available on the SRF website.

By the end of this presentation, you will have an opportunity to get your questions answered. We’d love to hear from you – please write your question in the chat.

For those of you just joining us, welcome and our talk today “What is epigenetics and how can it accelerate therapies for SYNGAP?” by Dr. Elizabeth Heller neuroscientist and SYNGAP caregiver.

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