Known SYNGAP1 Patients Worldwide
What’s the SYNGAP1 CENSUS all about?
Every quarter, SynGAP Research Fund (SRF) dba Cure SYNGAP1 and our partner organizations in the Syngap Global Network (SGN) tally up the newly diagnosed patients in our respective regions and come up with a global count. Today, the census stands at 1,581 patients, an increase of 51 from last quarter.
What does this number mean?
This is the total number of people diagnosed with SYNGAP1-related disorders (SRD) known to SYNGAP1 patient advocacy organizations and family support groups worldwide. It’s not the number of people in SYNGAP1 registries and it’s not the number of variants associated with the SYNGAP1 gene – multiple people can have the same variant. We do not include benign, likely benign variants, or Variants of Unknown Significance (VUS) without an accompanying clinical diagnosis. The summary census data is available in this Google Sheet.
Why is it imperative that we count SYNGAP1 patients?
It is crucial to identify all those with SRD so we can reach out and recruit more people into natural history studies such as SRF’s major collaboration with Citizen Health. It’s also a benchmark of how highly SGN patient organizations are engaged with the patient population they represent.
It is also critical to convince industry that we have enough patients to justify their investment:
“I think there are many in industry who are actually looking for a condition with say, a population of a thousand or more individuals. And that there is a reasonably clear playbook for approaching folks in industry and with coupling the right science with the right commercialization partners there’s a relatively clear playbook for advancing those relatively quickly in the matter of a few years.” – Dr. Timothy Yu, Simons Searchlight conference, August 2021.
How can SRF help newly diagnosed SYNGAP1 families?
Obtaining a diagnosis is overwhelming. We get it! Reading too much information right away is overwhelming too! We have developed the SYNGAP1 Resources for Newly Diagnosed Families that prioritizes and organizes information to review when you have time. We recommend that newly diagnosed families begin here.
How can SYNGAP1 families help?
- We urge everyone to connect with SRF or any of our partners in SGN and make sure we have you counted.
- If your family member with SYNGAP1-related disorders currently resides in any country where you can obtain medical records in English, we encourage you to participate in SRF’s SYNGAP1 Digital Natural History Study in partnership with Citizen Health.
- Sign up for all studies possible, such as one of SRF’s three ProMMiS sites – Children’s Hospital of Pennsylvania (CHOP), Children’s Hospital of Colorado (CHCO), or Stanford (info coming soon!).
- If you’re in a Spanish-speaking country, please also get in touch because we can organize the translation of your medical records into English.
- Register and upload your genetic report if you have it in any language.
- We also encourage every SYNGAP1 family to sign up for Simon’s Searchlight SYNGAP1 study.
- Follow SRF, SGN, & all SYNGAP1 organizations & families on social media – help spread the word.
- Fundraise – research isn’t cheap! The more money we raise, the more studies we fund. The more studies we fund, the more opportunities we have to find a treatment for our loved ones.
- Volunteer – as our numbers grow, so does the work required of us.
- Finally, please put a pin on the SGN SynGAP Map to see which families might be close to you. Connecting with others who share many similar experiences can be life-changing!
THESE NUMBERS ARE STILL TOO LOW!
Every new diagnosis proves that there are still more patients out there. SRF and SGN are determined to find them all. One of the most powerful things you can do as parents, caregivers, and siblings is to share stories. No matter where you live in the world, you can introduce your loved one via SRF’s Warrior Wednesday. If you have more to share, feel free to write about it – contact Jo Ashline to share pieces of your life with the community. Want to spread awareness through local media outlets? Here are some tips!
Making a short movie is another way to connect with families, researchers, and your community. All are great ways to get your voice heard and connect with others who know what you’re going through. If you’re part of an under-represented community or live in a country with a low diagnosis rate, please get in touch with us so we can help tell your story!
Check out our POST with the flags! (LinkedIn or anywhere you follow @CureSYNGAP1)
In Memory of those we have lost…
Please note – our census numbers do not include 4 (four) known Syngapians who we have lost. Please visit our SRF Memory page to remember and honor them. Forever in our hearts, and in their memory, we continue our mission to Cure SYNGAP1.
