University of Pennsylvania Epigenetics Postdoctoral Research Grant (Heller Lab)

University of Pennsylvania Epigenetics Postdoctoral Research Grant (Heller Lab)

Award: $127,000 grant to support postdoctoral research at University of Pennsylvania

Status: Completed (awarded 2020)

Funder: SynGAP Research Fund, with matching fund of $60,000 from three SRF families

Institution: Perelman School of Medicine at the University of Pennsylvania (ranked 3rd in the nation)

Research Location: Penn Epigenetics Institute (one of the best in the US, with 30 core faculty members)

Principal Investigator: Dr. Elizabeth Heller, Assistant Professor of Pharmacology at University of Pennsylvania

Project Details

Duration: Two years

Research Focus: Epigenetics of SYNGAP1

Objective: Study what is outside the gene and how everything else in the genome affects the regulation of SYNGAP1 gene. Identify mechanisms and tools to help increase SynGAP protein expression in the brain.

Project Support:

Funding for one postdoctoral fellow

Lab reagents and supplies

Animal models

Assistant professor's time and resources

Value Proposition: Full project cost ~$250,000; SRF contribution only $127,000 due to Dr. Heller's flexible funding covering additional costs

Key Significance

Researcher Background:
• Dr. Elizabeth Heller is an aunt to a 14-year-old girl in the US with a SYNGAP1 genetic variant
• She completed her postdoc at Rockefeller with Dr. Helen Bateup
• Connected to SynGAP research community via Dr. Gavin Rumbaugh's recommendation
• Gained deep appreciation for SYNGAP1 importance through project design

Research Team: Already connected to serious SynGAP researchers; positioned to develop new brilliant researcher to join SynGAP scientific community

Funding Mechanism

• Three SRF families established a $60,000 matching fund
• Community fundraising goal: $60,000 additional
• This grant enabled significant research contribution with leveraged resources

Why This Research Matters

• Only about a dozen labs on earth were working on SynGAP at time of award
• Epigenetics is a body of knowledge not yet studied for SynGAP
• Research can help improve existing therapies in development
• Aims to deliver therapies to patients in meaningful timeframes
• "Time is brain" - children's brains are being built during research period