Monday, February 2, 2026 – Week 6
All US Families, please take the time to fill out the ProMMiS Survey. It takes 5 minutes. It’s super important. Even if you haven’t been there, we need your feedback.
English: https://docs.google.com/forms/d/e/1FAIpQLSd0eUt5PRiKvpta24CVVW8Jfmxv5ogH1QiS-ZCGEhFW3JhLTw/viewform
Spanish: https://docs.google.com/forms/d/e/1FAIpQLSc5A4tTxx0qFj4jWdCDTcLWyp5KKMmdrTzElqwqSYprhX-fYQ/viewform
Our funding priorities for 2026 are Genetics, Behaviors & Isoforms. https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-grants-activity-7421952845693788160-EHeK
Pubmed 2026 is at 6! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
Coolest paper on Pubmed… GC rich areas were missed, so not only do we need to push for testing, but also REtesting. https://pubmed.ncbi.nlm.nih.gov/41577710/
Bravo to CURE SYNGAP1 Poland (please send me a shirt) & thank you to CAMP4 Event: https://www.linkedin.com/posts/curesyngap1_it-was-a-day-to-remembera-perfect-combination-activity-7422379922578587648-wNBP
Don’t move to or from US/EU/LatAm etc. This question keeps coming. Please stay where you are and advocate like crazy. Set up CURE SYNGAP1 [Your location]
Biorepository needs more samples. Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?slide=id.g3b4b5122442_1_36#slide=id.g3b4b5122442_1_36 and contribute blood. The data and research we do with these samples is invaluable.
Annual update to Champions of Hope! https://curesyngap1.org/champions-of-hope/
May 28, San Francisco, CA: cureSYNGAP1.org/SF26
SOCIAL MATTERS
4,661 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/
1,520 YouTube. https://www.youtube.com/@cureSYNGAP1/
11.2k Twitter https://twitter.com/cureSYNGAP1/
45k Insta https://www.instagram.com/cureSYNGAP1/
$CAMP stock is at $3.83 on 27 Jan. ‘26 https://www.google.com/finance/
Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/
Episode 197 of #Syngap10 #CureSYNGAP1 #Podcast
Below is a transcript from the video:
Mike Graglia
Hello, Syngap land. My name is Mike Graglia. Today is Monday, February 2nd. We are in week six of the year 2026. Before I jump in, there is a survey. We want every single family in the US to take. We want every single family in the US to take. If you’ve been to ProMMiS, if you haven’t been to ProMMiS, we want you to take this survey. It is in English and Spanish. Both links are the first two links in the show notes. Take the survey. Tell us about your experience at ProMMiS or tell us that you haven’t gone and why you haven’t gone. We want to make ProMMiS the best possible experience for every family. We have sites in Philadelphia, Colorado, and Stanford. Go, go, go. But start today. Take the survey. It will take one minute, one minute of your time. First two links in the show notes. All right. Kathryn Helde, our CSO, who’s just exceptional, has posted a blog about our funding priorities for 2026. I saw one family member write on Facebook. I read this. I have no idea what it means. That’s kind of okay. You should understand the high-level thoughts, but really this is targeted at our grantees and young investigators out there to say, this is the stuff we’re looking for. We’re sending a signal. It takes them time and energy to write these grant applications and to engage with us. We want them to know what we care about. What do we care about? We care about genetics. We want to understand the genetics of SYNGAP1, as I’m about to tell you with another paper. Not every patient gets diagnosed, right? So we want to understand the genetics of SYNGAP1. We want to understand where the other patients who aren’t diagnosed yet are. We want to find them. Behaviors. Behaviors are the things that bring our families to their knees. They brought me to my knees before. We have to better understand why the Syngapians have such extreme behaviors and how to help them. This is an area that has been understudied. We want to get it better. And isoforms, this gets a little geeky, but the SYNGAP1 gene is big and complicated and it makes different… sort of versions of itself. The way I think about it is like different lines. You know, I have a Subaru Ascent, but is it a touring model or whatever model? Is it white? Is it green? Do I have fancy extras? Whatever. Like, so that’s how I think about isoform. Same car. Different makes, different sort of trim levels. All the scientists are like, ‘Oh, Mike, stop trying to explain science.’ But the point is we need to understand those isoforms because different Syngap isoforms play different roles in the body at different times in life. And if we don’t, and we need to understand that because we’re dealing with these Syngapians for their whole lives and we need to understand what is haploinsufficiency and what is not. So excellent blog by Dr. Helde. Read it, share it. If you’re a scientist or a grantee, make sure you study it. PubMed, by the way, speaking of publications, is at six for the year. So we’re at one a week, which is a bit under where we need to be, but I’ll take it. The coolest paper on PubMed I read. Talked about a Syngapian who looked at some three or four different diseases, but there’s a Syngap case study in there. And basically this Syngapian was tested. But because they were in a GC-rich area, so remember, DNA is in all these different letters. And some of these letters are Gs and Cs. And if you get an area that’s got a lot of Gs and Cs, it turns out genetic testing, 10 years ago, short read, didn’t do a great job with that. And when they retested this patient with the long read, I’m not going to explain short read and long read because I’ll butcher it. They actually got a diagnosis. So there’s a lot of Syngapians out there who just because of the quality of the genetic testing and the location of their mutation on which exon. It was missed. It was missed. That’s an excellent paper and it helps us answer that first question in Kathryn’s blog. Where are all the other patients? We know from different models, from talking to people, from looking at, from studying ourselves. That there must be more Syngapians out there. So why are we not finding them? Why are we not finding them? Well, one of the reasons is, part of that answer is, which exons have GC-rich… Um, letters. And, and. How dense is our population there? How many are we missing? So we’re going to look into that. Again, we’re so lucky we have a… geneticist for our chief scientific officer, because it all comes back to genetics. Um, It also, though, if you’ve got a friend who you’re like, this kid needs genetic testing and the parents say something that rhymes with, oh, we got him tested a long time ago. They didn’t find anything. You got to hit that person upside the head and say, what kind of testing was it? Was it chromosome microarray? Because that’s not going to do anything for a genetic issue or. Was it a year ago? Was it 10 years ago? How long ago was it? Because this stuff changes every year, guys. And what we’re seeing now with long reads and some RNA work is… that genetic testing right now is better than it ever has been. And if you are looking at another kid and you’re like, ‘That kid’s life could be improved if the family knew what was going on, encourage that family to go after genetic testing.’ I just talked to a family last week. Kids 17. They were tested 10 years ago. Didn’t get anything. Got tested again. Boom. Syngap. So this is real, guys. We need to find every patient. I want to congratulate CURE SYNGAP1 Poland. And I want to ask formally, guys, I want one of those cool t-shirts. So CURE SYNGAP1 Poland. Basically, what we’re trying to do is get the different Syngap groups who are spiritually aligned around working together, clinical trial readiness, investing in science, to just go with really simple names. We are CURE SYNGAP1 There’s CURE SYNGAP1 LATAM, there’s CURE SYNGAP1 Poland, we’re starting other CURE SYNGAP1, we have CURE SYNGAP1 Australia, because we want industry to know that we are all… holding hands, singing Kumbaya, working together. We want clinical trials. We want them everywhere. So CURE SYNGAP1 Poland adopted that name, printed up t-shirts, and they hosted a meeting with our friends from the CAMP4 medical team to talk about Poland as a potential trial site. Huge work. Check out the LinkedIn post. Like it. Comment on it. This is an example of a community of parents who will not take no for an answer and have time and again shown up on a level that I’m not used to seeing outside the U. S. Except for the Argentines because they’re also a little crazy. And the Aussies. The Aussies are good too. But so really impressive work, CURE SYNGAP1 Poland. I hope you end up getting a clinical trial site out of that meeting. And I hope the rest of the world is watching. And truly is impressed by what you’re doing. Speaking of the rest of the world. A couple years ago, when we started getting excited about Stoke and CAMP4, I had a bunch of Europeans calling me, being like, ‘Mike, do I need to move to the U. S.?’ What should I do? Blah, blah, blah, blah, blah. And I… answered that. And now I’ve got Americans calling me. ‘Mike, CAMP4 is going to start in Europe. We have family in Europe. We’re going to move to Europe.’ Blah, blah, blah, blah, blah, blah, blah. Wherever you are, wherever you think clinical trials are going to be, don’t move. Don’t move. That’s my answer to everybody. Couple reasons. First of all, it’s a lot of work to move. With a Syngapian and then to establish care, tunnel, don’t do it. Second of all, when you… I am not in charge of who gets into a clinical trial. CAMP4 is not in charge of who gets into a clinical trial. CAMP4 contracts with clinical sites. Clinical sites are led by very senior clinicians who make decisions, right? They screen the kids. They say, ‘Yes, this kid should get in.’ The clinician at the site puts the kids in the study at the site. So if you’re moving from country A to country B, you’ve got to believe that you’re going to rock up in country B and walk into the clinician’s office if you can even get that far. And then you’re going to say, ‘Look at my cute baby.’ They’re so cute. Can I please get into the study? And by the way, I don’t want to be on a placebo. Wink, wink. And they’re going to be like, who the heck are you? Here’s my 10, 5, 15, 20 Syngap patients who I already know and love that are from this country. Why are you here? That’s what I said to the Europeans two years ago. That’s what I said to the Americans last week. Do not move. If you want a clinical trial site in your country, Check out what the Polish did. Check out what the Argentinians did. Organize your local patient community, wave your flag, work closely with SYNGAP1. Get in front of our industry partners and explain to them why they would be crazy not to have a clinical trial in your country. That’s the answer, team. That’s the answer. Organize, advocate, bring the trials to you. So please stop calling me about moving. Don’t move. On biorepository. We have a biorepository here in the US. We need more samples. There’s a lot of ongoing studies. I don’t have time to explain them all, but we need Syngap patients to be in that biorepository. We need your blood. We need you to consent. We need you to report. All those things. We have all these systems and processes. People will call you, but you’ve got to sign up. Mike, how do I do it? Where do I do it? Do I have to come to the conference in Denver? Yes, you can do it at the conference in Denver, but there’s a lot of conferences between now and Denver and our partners at CombinedBrain, IRB. Approved doctors, pharmacists, PhDs. These people are amazing. The chief scientific officer, by the way, over at CombinedBrain is one of ours, a Syngap mom named Dr. Lindsay Weiczorek, who’s just amazing. But there are… conferences that are part of the CombinedBrain where you can give blood for our bio sample and it will be collected by trained phlebotomists who work with kids who are very, very good. There’s going to be in Texas, Florida, Maryland, Colorado, North Carolina, Massachusetts, whatever MI stands, oh, Michigan. N, C, P, A, M, A, M, D, T, X, P, A, M, A. I know what these states are, but it’s just faster to read the letters. So guys, please, we need. If you’re in any of those states I just named, or there’s a link in the show notes, look at the map. There’s dates and places that you could take your Syngapian and donate to our buyer repository. Super important. On my notes here is we’ve updated Champions of Hope. Every year we update big donors, $5,000 and up, over their lives and we list them. I want to thank those people from the bottom of my heart. We could not do this without our donors. I’m so grateful. And then there’s two events. There’s one event coming up I want to announce. On May 28th here in San Francisco, we are going to have… a gala in San Francisco for CURE SYNGAP1 Ash and I are hosting. If you can make it, please join us. Thank you so much. Look forward to another pod soon. Things are happening, guys. The SYNGAP land is going fast.