While 2020 has felt to many like the longest year in our collective memory, Syngap Research Fund (SRF) is proud to announce that we have made substantial progress in our mission to situate our community closer to potential treatment options for our loved ones with SYNGAP1. The medical and scientific landscape focused on propelling SYNGAP1 research is ever growing as our patient population worldwide has approached 705 in total by the end of 2020. Consequently, SRF’s strategic vision and objectives are coming into view as we plan for the near future and for all of the work that remains to be done.
Recap of key milestones and accomplishments at year end 2020
- Funding science. To date, SRF has committed over $1.2M to labs at UPenn, USC, Baylor, Scripps & Hopkins. Notably, the UPenn & USC grants are to researchers who were not previously focusing on SynGAP.
- Gathering data. SRF has launched a digital natural history study that allows a patient’s full medical history to be gathered and distilled into data that is freely available for researchers. In partnership with a remarkable company called Ciitizen, we have already enrolled 90 patients and are continuing to invite the US community.
- Engaging families. Four groups of dedicated parents help SRF help people with SynGAP: a board of directors (all parents), a committee of parent-scientists, a team of ambassadors who support newly-diagnosed patients, and finally – a group of general volunteers. We also have two open weekly meetings for parents to connect with each other.
- Increasing awareness. We have delivered a webinar series this year to make the science more accessible to families and interested young researchers. We hosted the first annual SRF Scientific Roundtable with leading scientists — in Baltimore in 2019 and this year we held our event on Zoom.
- Partnering with other rare leaders. Developing a therapeutic intervention for a rare disease is an audacious goal. To achieve this goal, we need the wisdom and partnership of others who have already made great strides. We have built a number of these relationships for the benefit of our patient community.
- Digital Patient Support. We have rebuilt our website and included Spanish and four other languages. We have also improved our record keeping to be able to better support and communicate with our families and supporters.
- International Network. In addition to continuing our engagement with the Syngap Global Network, SRF established a Charity in the United Kingdom and established a growing presence in Latin America.
Looking Forward to 2021
Our preliminary research budget for 2021 is $423,000. We are working towards eight (8) different grants across three (3) goals.
- Clinical Trial Readiness $124,200
- Accelerate Scientific Research $198,000
- Improve Clinical Care $25,000
The nature of research is that these projects and numbers may evolve, we are sharing as much as we know in the spirit of transparency. You can find the detail in this spreadsheet. The more families who join us in fund-raising, the faster we can help our kids. If you would like to discuss how you can help either via donation or by having a fundraiser in your community, please let us know.
In addition to the above, we will continue to engage and support families, work with international SynGAP groups, host regular patient support meetings and an annual scientific meeting.
We have every reason to believe that therapies for our children could be reached in approximately three to five years. Our work is to ensure that happens and to accelerate that timeline as much as possible. Time is brain.
Lastly, as we think about the ambitious agenda for this upcoming year, we hope that you are inspired to join us in our mission. Any and every involvement is welcomed and recognized. Whether you sign up as part of the next Ciitizen cohort in an effort to help our researchers, or donate funds to one of our ongoing research projects – we are appreciative of your participation to our small but mighty community.