Every quarter SynGAP Research Fund (SRF) 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. In Q2 we predicted we would be somewhere between 950 and 1000+ by the end of the year. Today, the census stands at 985 patients.
This is the total number of actual, real life people with SYNGAP1 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.
This number is incredibly important for SYNGAP1 advocacy because it’s crucial to recruiting more people into SYNGAP1 natural history studies such as SRF’s major collaboration with Ciitizen (recently acquired by Invitae). It’s also a benchmark of how highly SGN patient organisations are engaged with the patient population they represent.
It is also crucial to give comfort to 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.
We urge everyone to reach out to SRF or any of our partners in SGN and make sure we have you counted. If your family member with SYNGAP1 is currently resident in any country where you can obtain medical records in English, we encourage you to participate in Ciitizen. 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. We also invite you to register and upload your genetic report if you have it in any language.
Finally, please put a pin on the SGN SynGAP Map to see which families might be close to you.
The summary census data is available in this Google Sheet. Thanks to our partnership and outreach with Ciitizen, we found an additional 58 families in the US, bringing the number of US families over 300. We are grateful to our friends in Syngap China for updating us on another 14 new families diagnosed there. In addition we added two more countries to our list: Greece and UAE. We thank all the SGN partner organizations for their updates.
We know there are many more undiagnosed patients out there. SRF and SGN are working diligently on outreach. One of the most powerful things we can do as parents and caregivers is to share our loved one’s diagnosis story. Please consider sharing your story via SRF’s Warrior Wednesday. It’s a great way to get your voice heard. 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!