As a community we are unified by having a loved one who suffers from a SYNGAP1 variant. We all want our children to receive a therapy that will help improve their level of SynGAP protein expression. We are fortunate that a number of scientists are looking at various aspects of SynGAP and that a few potential therapies exist in labs. But these treatments are still months to years away from making it to our loved ones.
Numerous important topics around SynGAP still need to be understood. We only have about a dozen labs on earth working on SynGAP. While these scientists are exceptional, curing a disease quickly requires a big team.
Getting researchers interested in a new gene isn’t easy... You need to entice them to study the gene, support their start-up costs, help them connect with existing scientists, and be available for the path to them being an independent SYNGAP researching lab. It’s tricky.
Wouldn't it be amazing if a rising star researcher from a major institution was a specialist in something that we have not yet understood about SYNGAP1? Equally incredible if that thing was something that could actually give us tools to address the problem and increase the level of the protein in the brain? Even better if that person was already connected to serious SynGAP researchers?
Ideally, that person would actually care for and love someone with SynGAP -- like we do. This way, their motivation would go beyond the altruistic desire to help humanity coupled with the practical need to progress in their career, to a personal mission. Having a relative of a SynGAP patient who met all these criteria would be incredible.
Epigenetics is the study of what is outside of the gene --of how everything else in the genome affects the regulation of a gene. It is a body of knowledge that we do not have for SynGAP.
The Perelman School of Medicine at the University of Pennsylvania is ranked 3rd in the nation. The Penn Epigenetics Institute with 30 core faculty members is one of the best in the US.
Dr. Elizabeth Heller is one of those faculty members. She is an Assistant Professor of Pharmacology who has already made significant contributions (see resume). Her lab has the team, tools and experience to develop the Epigenetics knowledge we need about SynGAP. And…
Elizabeth Heller is also an aunt to a 14 year old girl in the US with a SYNGAP1 genetic variant. She’s close to her niece and understands how SynGAP turns a family's life upside down. On top of that, through designing this project, she has come to appreciate how important SYNGAP1 is and now finds herself genuinely fascinated.
When SRF received a request to support a postdoc in Elizabeth Heller’s lab for two years to study the epigenetics of SYNGAP so that we could identify other mechanisms to help SynGAPians, we were thrilled. When we heard that Dr. Elizabeth Heller did her postdoc at Rockefeller (read the last line in that article, really) with Dr. Helen Bateup and knows Dr. Gavin Rumbaugh -- she actually was connected to SRF via SGN at Gavin’s recommendation -- we felt very lucky.
I spend hours talking to and collaborating with other rare disease leaders and I'm not exaggerating if I say that any of them would be grateful for this opportunity.
But two years of a postdoc, reagents, animal models and an assistant professor's time is expensive. Fully loaded this would cost over a quarter of a million dollars... $250,000. Fortunately, Dr. Heller has some flexible funding that will allow her to cover some costs and all she is requesting from SRF is the funding for the post-doctoral fellow. We can make $250,000 of research happen for $127,000.
Three SRF Families have established a $60,000 matching fund! So we only need another $60,000 and this grant can happen.
The work in Dr. Heller’s lab can help us improve the therapies we know of that are currently in labs and help the community deliver therapies to our children in a time frame that matters. Our loved ones brains’ are being built right now. Let’s do this. Time is brain.
This is why we have moved very quickly on this opportunity. We look forward to working with all of you to raise the funds necessary to make this grant to the University of Pennsylvania epigenetics Heller lab, so that this incredible scientist and aunt can train up a new brilliant researcher to become part of the SynGAP scientific community, which will help our children for the rest of their lives.
As a reminder 100% of any donation to SRF goes to science since our founders cover all the operating expenses of the organization. Indeed, with this matching fund, 200% of your donation will go to the Heller lab via this grant.
We understand that these are difficult times for many and not everyone will be able to contribute directly. But we can all do something.
Thank you for reading this, thank you for considering this exciting project, and thank you for partnering with SRF to change the future for the 600+ SynGAPians we know about and the thousands we haven’t found, yet.
Dr. Heller gave an SRF Webinar on the project. It was excellent.