When your child is diagnosed with a rare, devastating neuro-developmental disorder — one with only 648 patients diagnosed globally, and no treatment or cure — you’re immediately taken to a very dark place. But then you get home, and you scour the internet, and you quickly find patient support groups via Facebook.
And you realize that the majority of these families are connected and share a unique and common bond: the hardships and joys in raising a Syngapian. In this day and age, the natural question is “Why is there no treatment yet?” It is the right question. The answer is research costs money and for a rare disease, there aren’t enough patients to justify public investment, so it falls to the families.
We as a community have the ability to collectively accelerate the path to treatment for our children. We can raise the funds to focus more researchers on SYNGAP1. But how to do that? Give a gift to my local university? How about a grant to an existing researcher? Should we invest in something like a drug screen that might help a bit in a few years, or something sci-fi like prime editing that could cure our kids in a few more years? The questions are endless.
The best way to move the needle for SYNGAP is pool our funds in an organization that primarily exists for the purpose of doing exactly that. There are multiple organizations in the SYNGAP space, so which one to work with?
Here are seven reasons our family supports SRF—as both volunteers & donors—and you should too:
LASER FOCUS ON SCIENCE
ZERO OVERHEAD: EVERY PENNY YOU DONATE GOES TO SCIENCE
FOUNDING MEMBER OF THE GLOBAL SYNGAP NETWORK
FULL-TIME DEDICATED MANAGEMENT
SAB IS AN ENGAGED TEAM OF TOP-SHELF SCIENTIFIC ADVISORS
A PARENT TEAM OF DOCTORS & SCIENTISTS
SMART PORTFOLIO APPROACH
Let me flesh those out:
SRF HAS A LASER FOCUS ON SCIENCE SRF was created to accelerate the science—it is why we exist. SRF wrote & funded three grants in the year it was created. Read the blogs (Ashley’s article on a cure is a good start) and review the webinars, this organization is focused. As of now, SRF has granted over $1,000,000 to scientists. Not bad for a 2 1/2 year old organization.
SRF IS ZERO OVERHEAD: EVERY PENNY YOU DONATE TO SRF GOES TO SCIENCE Organizations have expenses. Websites. Accountants. Lawyers. Printing. Mailing. Travel. etc. Whenever you give to an organization it’s important to understand how much money is “feeding the beast” of the org and how much is doing something you care about. Since the founders initially conceived SRF as an aggregator of funds for research, the founders decided this number should be as low as possible: they designed a lean virtual organization run by parent volunteers with very low costs. They then set aside funds to cover all the operating costs of SRF, so that every donor could be sure, 100% of funds entrusted to SRF will go to a lab or research project.
SRF IS A FOUNDING MEMBER OF THE GLOBAL SYNGAP NETWORK SRF a founding member (and the only American member) organization of Syngap Global Network (SGN). This global consortium of Syngap organizations are constantly collaborating to achieve common goals. SGN collectively tracks and prioritizes all research projects to both ensure no duplicative efforts & to identify all opportunities for collaboration.
SRF HAS FULL-TIME DEDICATED MANAGEMENT WORKING WITH PROFESSIONAL PARENTS Our founder left his job at the start of 2020 to run SRF full time as the managing director. This is good news for SRF since Mike’s path has been a strong preparation for running a rare disease organization. Mike’s experience in healthcare as a consultant, in grant making at major institutions, as well as other roles where had to meet constant challenges all inform how he pushes SRF forward every day. That skill set is valuable and free for SRF. In addition the board of SRF is composed of strictly parents who represent a dozen SynGAP families. These Directors of SRF all volunteer their time to ensure SRF stays focused on making progress with science for our kids.
SRF SAB IS AN ENGAGED TEAM OF TOP-SHELF SCIENTIFIC ADVISORS The scientific advisory board of SRF is a carefully curated and intentionally small group of remarkable scientists. We don’t know where the next breakthrough will be nor what specific technology will drive it. But when the question arrives, this SAB has the knowledge and network to make sure SRF gets a good answer.
SRF HAS A PARENT TEAM OF DOCTORS & SCIENTISTS In addition to the SAB and constant engagement with biotech & pharma, SRF has built a team of parents who all have advanced training in medicine or science. The SRF MedSci team has three MDs, three doctorates, a veterinarian & some nurses who meet every month and pour through the research through the lens of a parent. This team is exactly who you want to be working with the scientists we are funding.
SRF TAKES A SMART PORTFOLIO APPROACH There are multiple paths to treatment for genetic conditions like Syngap: small molecules, antisense oligonucleotides (ASOs), AAVs (gene editing), etc. SRF has strategically diversified their investments across multiple labs pursuing multiple techniques (nearly $1M to-date) to allow for the highest likelihood of identifying novel therapies to serve a broad patient population. Smarter still, SRF realized that with all the research they are tracking, it wasn’t clear who would get out of the lab and into the clinic faster. But they will all need to complete clinical trails to get there. This is why SRF has made a meaningful investment in building a digital natural history study in partnership with ciitizen—this data will help whomever decides to do a clinical trail move faster. All parents should sign up for ciitizen (click here http://ciitizen.com/syngap1) , we are lucky to have it.
SRF is remarkable, so much so that the Rare Film Festival made a film about it. Please watch it here, and then join me in supporting the Syngap Research Fund. Together, we can significantly change the trajectory, and improve the quality of life, for our children.