Tuesday, April 14, 2026 – Week 16
Census is 1,761
https://curesyngap1.org/blog/syngap1-census-2026-update-54-q1-total-1761
Trip to Texas for UT Arlington and Cook Children’s
– Systems innovation with Dr. Lal and Dr. Perry
– My post:
https://www.linkedin.com/posts/graglia_raredisease-activity-7448087944466259970-MADW?utm_source=share
– *** Dr. Lal’s post: ***
https://www.linkedin.com/posts/dennis-lal-71a8988a_epilepsies-neurodevelopmentaldisorders-raredisease-activity-7449111793991577600-sfXZ
ProMMiS patients – 164 unique patients, 96 of whom have had 2 visits & 46 others 3-5 visits cureSYNGAP1.org/ProMMiS
Citizen – 289 registered
https://www.citizen.health/ai-advocate/syngap1
Victoria Arteaga representing CURE SYNGAP1 at IBE Global Leaders Meeting
https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-rareepilepsy-dee-activity-7449587651885621248-UD9v
Newsletter 51 – cureSYNGAP1.org/NL51
SYNGAP1 Snippets
You are in this for life. cureSYNGAP1.org/Snippets
Board meetings to approve budgets, fundraising has never been more important.
6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 12 days – $169k! Go Tavilla.
17 teams raised $265K last year; this year, we have 24 teams who have raised almost $170K so far.
https://curesyngap1.org/calendar/sprint4syngap-2026
INAUGURAL SF NIGHT OF IMPACT, CA – 46 days
Join us this is our only Gala for 2026!
cureSYNGAP1.org/SF26
5TH SCRAMBLE FOR SYNGAP, SC – 174 days
Classic case of a small event becoming an institution!
cureSYNGAP1.org/Scramble26
PUBMED
Pubmed 2026 is at 24. +8 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
SOCIAL MATTERS
4,869 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
1.55k YouTube. https://www.youtube.com/@cureSYNGAP1/
11.1k Twitter https://twitter.com/cureSYNGAP1/
45k Insta https://www.instagram.com/cureSYNGAP1/
$CAMP closed at $4.64 yesterday.
https://www.google.com/finance/beta/quote/CAMP:NASDAQ
Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10
Episode 204 of #Syngap10 #CureSYNGAP1 #Podcast
Below is a transcript from the video:
[ 00:00:00 ] Hello, Syngap land. My name is Michael Graglia. Today is Tuesday, April 14th, and this is episode 204 of the CURE SYNGAP1 podcast. We are in week 16 of the year 2026. Since we are in April, the incredible team led by Jess Duggan has published an updated global census. We have 1,761 patients worldwide and 500 of those patients in the U.S. That is a great number. It gets bigger every quarter. Keep in mind, it’s too low. Not it’s too low, there should be more. It’s too low, there are more.
If you double click on the article and you look at certain countries, I’m looking at you, UK, that number hasn’t changed for a year. We know people are being diagnosed in the UK. They just haven’t updated their number. We also know there are people who have this disease that have not reached out to the organization. Please reach out to us. Let us count you. Let us know where you are. So that when the clinical trials come, we can recruit you into them.
[ 00:00:51 ] We will respect your privacy if that’s what you want. And there are people, as we all know, who still haven’t been diagnosed because it’s too damn hard to get diagnosed with this disease.
[ 00:01:00 ] But it’s exciting that we do have 1,761 because this disease is getting people’s attention.
[ 00:01:07 ] Whatever, we’re on Tuesday. So last week I was in Texas. I got to go to Fort Worth, Dallas, Fort Worth, Dallas Metroplex, whatever they call it down there. And it was amazing. Dr. Dennis Lal, who is an exceptional geneticist that has been a strong friend of patient advocacy groups for years, to his credit, has moved to UT Arlington and Cook Children’s. The joint appointment, which is appropriate because he’s a rock star. And he is really working on building a better health system research complex for patient advocacy groups. I share my LinkedIn post and I also share Dr. Lal’s LinkedIn post, which is really worth reading. I’m going to put a little… I’m going to put little stars by his post. If you read one thing in the show notes, go read Dr. Lal’s post because what he talks about is how much work patient advocacy groups have done.
[ 00:01:56 ] How we need—we the healthcare providers—need to build a better system to engage rare disease families. The system is letting us down. And I agree with that 100%. And I think having someone like Dr. Lal, who is incredibly accomplished and credentialed, making that case to his peers, other clinicians, and other university administrators, saying, “guys, we have to do better with these families.” These families have complicated kids, severe disease. We need to do a better job of working with them is ..
[ 00:02:25 ] just inc-just—long overdue. And I think Dr. Lal is just emerging as one of the… most impressive leaders I’ve seen in this space.
[ 00:02:36 ] Please check out that post and look forward to hearing more about what’s going on at UT Arlington and at Cook Children’s. Spoiler alert: They want to build specialty clinics. They want to build a clinic for Syngapians complete with psych nurses, psychiatrists, neurologists, social workers, everything you need. So if you’re in Texas, I want you to keep an eye on that. They haven’t put it all together yet, but very soon that is coming, and the care will be offered at Cook Children’s in Fort Worth. So I’m excited about that.
[ 00:03:09 ] I want to quickly remind you that while things like that are coming on, we are still recruiting for ProMMiS. ProMMiS so far has seen 164 unique patients. A third of our US population, 96 of whom have gone for two visits and 46 have had three to five visits. Those 46, that’s 10% of our US population. Those 46… people are really making a huge contribution to the data.
And I want to thank you guys for going back to the ProMMiS sites, for filling out the surveys. It’s super important, especially as clinical trials arrive, to build a dataset. We’re going to take that data to the FDA and say, “Look, this is what Syngapians look like. This is what treated Syngapians look like. Look at the difference. Approve this drug, right?”—so this natural history study is super important. Please take part in ProMMiS. We have three sites in Colorado, Stanford, and um, CHOP, of course.
We also have the DSCIII coming online soon. I know it’s a lot to keep track of. Don’t worry. That’s why I do this podcast. But exciting news out of Texas.
[ 00:04:11 ] Big kudos for Dr. Lal. We have DSCIII, but right now, what’s live and what you can do is go to a ProMMiS site: Stanford, Colorado, and CHOP. I never want to miss that point.
The other thing you can do right now, right now at your desktop, is sign up for Ciitizen. We have 289 families who have signed up for Ciitizen or are taking advantage of that free service, complete with the AI advocate, where you upload all—they gather your medical records for you. And then you can talk to an AI who can see your medical records in your HIPAA-compliant, super secure account. And you can be like, “When did I do this? When did I do this?” It’s great for filling out forms. Sign up for Ciitizen. Make sure you’re going to ProMMiS. Look forward to what’s going on in Texas and with DSCIII.
Also, I want to give a shout out to Vicky Arteaga. So while I was in Texas giving talks about Syngap and meeting with Dr. Lal and leaders from that university and other rare disease leaders, on the other side of the ocean, Vicky Arteaga was in England at an International Bureau for Epilepsy or for whatever, an IBE meeting
[ 00:05:13 ] with global leaders looking at global advocacy for epilepsy. And Vicky Arteaga was there. We had friends from KCNT1, from SLC6A1, other friends there. A lot of Latin American leaders. Awesome work, Vicky. So that last week, the Syngap1 flag was being flown around the world by our leadership.
[ 00:05:32 ] Thank you so much for doing that, Vicki.
Newsletters: if you’re like, gosh, there’s so much going on. How do I keep track? Thank you, Ed, for making the newsletters. Newsletter 51 is up. Please check it out. I actually really enjoy reading these newsletters. CURE SYNGAP1 has gotten to the point where I have to read the newsletter to see what’s going on, which is funny because I used to write the newsletter.
And one of the things I learned from this newsletter is that we now have something called Syngap1 Snippets, which I didn’t know it was a thing, but it’s a thing. And so Roy, who does a lot of our video editing, thank you, Roy.
[ 00:06:02 ] took my closing speech from the conference and made little snippets because it was a long talk. I kind of just went off. And so there’s a bunch of three and four-minute little snippets in there that are really worth watching, if I don’t say so myself. And so if you’re just kind of new to this party or if you missed the conference, make sure you go to the newsletter. So curesyngap1.org/nl51 for newsletter 51 and then you then you scroll down there and the Syngap Snippets clip on that. There’s also a link in the show notes, of course, but um, those are interesting talks. I listened to myself a little bit this morning and I was like, “Oh, I was having a good day.”
[ 00:06:45 ] I’m getting ready right now for a board meeting a little later today. We have a reminder, there’s 14 families on our board of directors. So this is led by you, by patients. We are patient-led. And they’re going to review and approve, hopefully, the budget for this year. We’re a little behind on that, but, you know, there’s been a lot going on.
[ 00:07:05 ] And as I’ve been looking at the budget a lot for the past couple of days, I got to tell you guys.
[ 00:07:10 ] Fundraising has never been more important.
I know we have clinical trials around the corner, but our work just continues to expand. It continues to expand. There is so much to do. There are so many patients and there are such interesting opportunities and new fights to fight, right? Now we have clinical trials coming and we’re assuming we’ll have an approved therapy in a couple of years. Um, the question is, who’s going to pay for it? And what are they going to pay for it? And how much does this disease really cost?
And that was a meeting I had just this morning. I think getting ready to spin up an entire healthcare economics program and being able to document rigorously and scientifically how much this disease costs. So when it comes time to ask insurers and Medicare to pay for our drugs, we’ve got some data there.
[ 00:07:56 ] That is just work that our staff is doing and we will do, hopefully, with some support.
But fundraising matters. Last year—we have Sprint for Syngap in 12 days. We have Sprint for Syngap in 12 days. That’s our big peer-to-peer fundraiser. If you just got diagnosed yesterday and you’re like, “What’s Sprint for Syngap?” Click on that. Start a team right now. Start fundraising. Um, last year, 17 teams raised $265,000. Great job. This year, we have 24 teams who so far have raised almost $170,000.
As usual, the Tavilla family in Boston is doing the lion’s share of that fundraising, and we are very grateful to the Tavillas. Make sure you hug a Tavilla today. I might get “Hug a Tavilla” buttons made for the conference. They really just kill it on this event. But everybody can catch up to the Tavillas. Wouldn’t that be amazing? So those 24 teams, please beat the street. Urge people to donate. These funds help us do the important work of making the future brighter for our kids.
If you’re near San Francisco, we have our gala in 46 days and the Scramble for Syngap in South Carolina is in 174 days.
[ 00:09:02 ] I always watch PubMed, which tells me how many publications this year were about Syngap1. PubMed is at 24. As a reminder, we’re in week 16, so we’re up eight versus the week on the year, which means that we could be on line for a record year because last year we had 61 papers at the end of the year. That was nine more than the number of weeks. So that’s kind of how I think about it.
There’s some really interesting papers in there, especially about cerebral palsy and motor issues. Thank you, CHOP. Hey, LinkedIn is at 4,869. I really want as many followers as possible on LinkedIn. So if you haven’t told all your friends and family and anyone who’s on LinkedIn to follow CureSyngap1, please do. Camp closed at 464 yesterday. This has been episode 204. There’s a lot of exciting things happening in Syngap Land. Stay hopeful. Stay connected. We’re going to get to some really great places.