Tuesday, September 8, 2026 — Week 37
DON’T MISS ASO UPDATE
Episode 217 came out over the weekend. Don’t miss it. There was lots of ASO news in there. https://www.linkedin.com/feed/update/urn:li:activity:7502544874399928322/
NATIONAL PRESS
USA TODAY Special-needs care / education crisis — and a SYNGAP1 family featured. Diagnosis and future therapies aren’t enough. Families need care, education and support today.
https://www.linkedin.com/posts/bernadette-basilico-6924b29a_a-two-year-postdoctoral-position-with-share-7500493855591432192-sOD6/
ADVOCACY UPDATE
SYNCHRONY — PALO ALTO
KAH + I attended the BRAIN Foundation’s Synchrony symposium. The autism community is starting to wake up to neuroinflammation, and mental health psychiatrists are really working hard on this topic. There are also people looking more at the impact of diet. https://brainfoundation.org/synchrony-symposia/
ILAE #EEC2026 — ATHENS
Virginie + Jaime + Vicky + Katrine representing SYNGAP1 at the 16th European Epilepsy Congress, Sept. 5–9. https://www.ilae.org/eec2026
Virginie’s Post: https://www.linkedin.com/posts/virginie-mcnamar_eec2026-ugcPost-7502600886368559105-LPbu/
THINGS YOU CAN DO RIGHT NOW
1. GENEDX SURVEY
How has getting a SYNGAP1 diagnosis improved your child’s care? 5 minutes. Worth it. Please do it. https://genedx.qualtrics.com/jfe/form/SV_0etLDloT0VBJWHc?PAO=syngap
2. ARI / CITIZEN HEALTH
Sign up. Longitudinal medical records → research-ready data.
This is clearly the future. https://www.citizen.health/join/syngap1
3. SYNGO SYNGAP1 resource for families from LATAM, ask it to speak English! https://curesyngap1.org/syngo
COMMUNITY GROWTH AND SUCCESS
CURE SYNGAP1 PORTUGAL 🇵🇹
Congratulations to the Portuguese SYNGAP1 community — legal organization established + website live.
Special applause for Henrique’s leadership. Another national organization building local advocacy and community. https://curegyngap1-portugal.org/en
SCRAMBLE FOR SYNGAP — SOLD OUT
Congratulations to the Scramble team — the 5th Annual Scramble for SYNGAP is SOLD OUT. cureSYNGAP1.org/Scramble
25 days to go. A great example of a community building momentum year after year. https://mailchi.mp/796f3e59d71b/the-scramble-for-syngap-is-sold-out
UPCOMING EVENTS — COUNTDOWN
SHOOT FOR SYNGAP1 — 67 DAYS
November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot
FIGHT FOR FELIPE — 81 DAYS
November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight
CURE SYNGAP1 CONFERENCE — 86 DAYS
December 3–4 — Denver, Colorado cureSYNGAP1.org/Reg26
PUBMED
50 SYNGAP1 publications in 2026. +13 vs. Week 37. https://pubmed.ncbi.nlm.nih.gov/42692765/
Last year finished at 61 publications — +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
USA 🇺🇲: Use your ICD-10, F78.A1
SOCIAL MATTERS
5,220 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
1.61k YouTube. https://www.youtube.com/@cureSYNGAP1/
11.1k Twitter https://twitter.com/cureSYNGAP1/
43.7k Insta https://www.instagram.com/cureSYNGAP1/
Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/
Episode 218 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy
Below is a transcript from the video:
[00:00:00] Good morning, SYNGAP land. My name is Mike Graglia, and this is episode 218 of the CURE SYNGAP1 podcast. It is Tuesday, September 8th. I hope you had an amazing Labor Day weekend. I cranked out episode 217 over Labor Day weekend. It was all about ASOs. Don’t miss it. First link in the show notes. Because I was talking about all the ASO news, I didn’t get to a few other things that happened that I want to make sure we mention. The most interesting to me, at least, is the USA Today article that came out about a week ago talking about special needs care and the education crisis.
[00:00:33] If you’ve been following this, you know that I’m in the midst of my own education crisis with Tony. This article is primarily about a beautiful little girl, Charlotte, who is the daughter of Christina Hartman, who’s a fierce rare disease advocate and professional. And the author of this article wanted to talk to somebody else. And the author of this article is really, really good. This is her focus. This is her beat, special needs and parenting, specifically moms. So oddly, Christina told her to call me.
[00:01:03] We got Tony and Tony’s story in that article too. So there’s a LinkedIn post in there where CURE SYNGAP1 points to the article, and there’s the article itself. If you haven’t read it, read it. If you haven’t shared it, share it. If you haven’t gotten your head around the fact there’s an education crisis for kids with special needs and you love someone with SYNGAP1, get your head around it because it’s a slow-moving, uh, tidal wave. Other things I didn’t talk about but I need to. Last weekend, so, but weekend before Labor Day, uh, Kathryn Helde flew down from Seattle to the Bay Area.
[00:01:34] And I drove down to Palo Alto, and the BRAIN Foundation had what they call a Synchrony Conference. The BRAIN Foundation is a local foundation that focuses on profound autism. And, and there’s, and I looked at it and I was like, oh, take a Sunday off being with my family? No, thank you. And then I read the speaker list and I was like, oh, I got to go. And it was just a lot of people talking about ways to deal with profound autism, severe behaviors. There’s a lot of talk in there about neuroinflammation. As our kids get older and harder and drugs stop working and houses start being beaten up, neuroinflammation comes up a lot. So I went to this conference.
[00:02:10] To try to figure out what people were talking about, if it resonated with SYNGAP, if there’s people in that room that SYNGAP should be talking to. And me and Kathryn, we barely sat down the whole day. Around talking to researchers, making connections, figuring out what’s going on. There are a lot of people from UCSF and Stanford there, so I think that was a really great use of time. And I just want to take the moment to publicly thank Kathryn Helde for, for all the work she does for SYNGAP. You guys have no idea how lucky you are to have a SYNGAP mom who is that smart, that well-trained, and that feverishly committed to changing the future for our children.
[00:02:43] We as a community, and this goes for the whole staff, Kathryn is just, she’s fierce. She’s fierce in a good way. And we’re lucky to have her, and it was such a treat to spend the day kind of with her, kind of just watching each other tag team around the room. But the Synchrony Conference was awesome. Big thanks to the BRAIN Foundation. And then that topic of neuroinflammation, I just want you to know we’re thinking about it. We’re thinking about research that we can do to deal with the behaviors we’re seeing in older Syngapians, and I strongly urge you to donate so that we can fund more of that.
[00:03:18] ILAE, as I speak, Virginie, who is our president and COO, who also falls in that fierce advocate nonstop category, Jaime, who’s on our board and leads CURE SYNGAP1 Spain, Vicky, who leads CURE SYNGAP1 LATAM, and Katrien, who leads CURE SYNGAP1 EU, are all running around a big conference hall in Athens. Apparently it’s not big enough for the posters, but that’s a separate problem. And I’m getting updates kind of as I wake up and as I go to sleep, and we’re on the phone, and there’s a lot of good things being shared in Athens that we’ll be talking about in the months to come.
[00:03:53] Very important that we are represented at that meeting. Very important that the researchers and decision-makers and companies at that meeting are hearing SYNGAP land, meeting four professional, polished, exceptional parents, um, who are part of the largest SYNGAP1 collective on the planet, which is us. So really huge thanks to them, and know that as we speak, there are four parents giving their time, working hard to, um, and staying together in an Airbnb. This is, this is not a luxury trip, guys. We’re there. We’re, you know, we’re just there to be there and to fly the, the SYNGAP flag. And I, I’m really, really grateful to that exceptional crew, um, for, for running around Athens right now. I’m sure there’ll be more updates.
[00:04:39] There, but so last weekend we were in Synchrony Conference, this weekend we’re in Athens, and we’re in USA Today. We’re doing something right. What can you do to help? GeneDx survey. We are doing a survey right now about how SYNGAP1 diagnosis improved your child’s care. It’s five minutes. Please do it. Our friends at GeneDx have been longtime partners, and we would love it if you could just click on that survey. Five minutes when you’re in the waiting room, while you’re on the phone right now, while I’m yapping. Just click, click, click. cureSYNGAP1.org/GDXsurvey. The other thing, if you haven’t signed up for Ari with Citizen Health, let me tell you something. Ari is the future. Ari is the future.
[00:05:20] If you’re a SYNGAP parent in the U.S. and you’re not on Citizen, please get your act together and sign up for Citizen. It is a free tool. It is a powerful tool. It will help you, and it helps the community. Once you’re on Citizen, you can also sign up for Ari. Ari is like a little AI agent that texts with you. You don’t even have to log in. It just texts with you. And when you connect Ari to Citizen, it can see all the medical records. It can answer questions about your kid. It can write letters. It can remind you about stuff. It’s just an amazing tool. Trust me on this one. Ari is the future. Sign up. Citizen.
[00:05:47] Health slash Ari slash SYNGAP1. Link, of course, is in the show notes. Last thing, coming out of LATAM, which is just on fire these days. I got to say, we have an entire LATAM operation from Chile to Argentina to Colombia and the whole rest of everything below the border. And they’re killing it. Speaking of below the border, a really talented mom from Mexico has created a, a chatbot called SYNGO, S-Y-N-G-O. So cureSYNGAP1.org/SYNGO, S-Y-N-G-O. And it starts speaking in Spanish because it’s from Mexico. But if you say, hey, talk to me in English, it’ll talk to you in English.
[00:06:19] And what we’ve done here is we’ve made it, we, what she’s done here, she’s made a chatbot that has looked at everything on our website and can start talking to you about what’s going on Syngap. Ari will be an AI agent that is incredibly polished that will talk to you about your kid and has access to your kid’s medical records if you’re in Citizen. SYNGO is like, hey, when was SYNGAP first discovered? What’s going on? Who’s this Huganir guy? What did he do? Like, you know, SYNGO and Ari are different. But really cool app, freely available, link from our website. Check it out. More great news. This is a really exciting episode. If it wasn’t 6 a.m., I’d be more—I’m still drinking my coffee. I want to give a huge, huge thanks to Henrique.
[00:06:54] Henrique has created a legal entity in Portugal. He has named it CURE SYNGAP1 Portugal, and he has stood up his own website, which is really impressive. Standing up a website is a lot of work. Most organizations just let their web stuff sit on our website. Hey, Henrique, all you let me know when you want to hand it back to us. But cureSYNGAP1.org, cureSYNGAP1-portugal.org/en. Links in the show notes. This is how it’s done, guys. Setting up a country operation in each country, connecting.
[00:07:34] Those operations into one collective, the CURE SYNGAP1 collective, and going to industry and being like, where do you want to do trials? Who knows where people are going to do trials next? Maybe they want to go to Portugal. Maybe they’re going to want to go to Italy. Maybe they’re going to want to go to Chile. Go read that New York Times article in episode 217. The future is uncertain and the geography of clinical trials is changing. So really check this out. Out. And if you’re looking at Henrique and you’re like, hey, I’ve got a country. We don’t have an organization. Call him up. Call me up. We know how it’s done. Let’s get it done. Scramble for SYNGAP, as usual.
[00:08:04] I want to sing great praises for Julie Miles. This is the fifth annual Scramble for SYNGAP on October 3rd. Too late if you want to go. It is sold out. Great job, Julie. Twenty-five days to go. I’m really excited to hear how that event goes, and, you know, this is my plug for doing a fundraiser. There’s three more events coming up. Shoot for SYNGAP1, 67 days, in Utah. Fight for Felipe, which is basically a beer-drinking event. I really want to go, on November 28th in Boston.
[00:08:31] The CURE SYNGAP1 Conference on December 3rd in Denver. Um, if you’re near any, though, if you’re near the Shoot or Fight, you should go. If you’re not coming to the conference, stop what you’re doing. Book your tickets right now. But my point is, running an event, raising awareness for SYNGAP locally, and raising money for us so that we can fund more important work, it’s such a smart thing to do. The money’s essential, but so is getting your local community to understand your child and that they have a severe disease.
[00:08:55] We forget because we are so grief-stricken that our child has a severe disease that other people are, including our families, by the way, just don’t understand that this is serious and this is the beginning of a tidal wave that is gonna take us out, right? I hate to be negative, but the only way to survive this challenge is with community. So let people know, and a way to let people know without being the most depressing person at every party while you’re still getting invited to parties is to do an event and have some fun and talk about it. Let me keep going. PubMed is at 50. That’s one more since last time I talked about this.
[00:09:29] That’s 13 more than the week we’re in. That’s exciting because we ended last year at nine more. So it tells you there’s more momentum. The latest paper is out of India. I haven’t had a chance to read it yet, but it’s a crack team in India. He’s been working on SYNGAP for a long time. Really excited about that. Social media, LinkedIn, YouTube. Make sure you are following us on LinkedIn and YouTube. Amplify our content. This is how we find more families. This is how we grow the community. This is how we make sure that we can cure SYNGAP1. Thank you so much for listening. Have a wonderful week.