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DSC – RDCRN – NCATS – NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184

Friday, September 26, 2025. Week 39.

In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.

DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1-related disorders (SRD) Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia

In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org/blog/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital/

Pubmed is at 44! (+2 v ‘23, -10 v ‘24, 2nd place) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

Cell Paper on AAV in Mice: https://www.linkedin.com/posts/boaz-levi-07387741_aav-delivery-of-full-length-syngap1-rescues-activity-7376306391537532928-iT9u/

Last week was a CB Conf in Nashville, attended by KAH and VA, thank you to both. KAH in Staff yesterday, the hardest thing is not seeing Joey. ☹️ Thanks to MS for going too.
MS https://www.linkedin.com/posts/melissasmith1_raredisease-patientadvocacy-syngap1-activity-7374408667091333120-Udp0/
KAH https://www.linkedin.com/posts/kathryn-syngap-research-fund_the-combinedbrain-conference-in-nashville-activity-7374639535021928448-gWB4/

Two big upcoming events:
Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A/

CURE SYNGAP1 Conference 2025 in Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

SOCIAL MATTERS

COMPANIES WITH NAMED ASSETS FOR SYNGAP1
$CAMP $3.00 at close on 9/23

Episode 184 of #Syngap10 #CureSYNGAP1
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Below is a transcript from the video:

Mike Graglia

[00:00:00] Hello, Syngap land. My name is Michael Graglia. This is episode 184 of the Cure Syngap1 podcast. I just did 183. But I’m stopping these things at 10 minutes now. So here we go. We’re jumping into 184. Let’s do this. The developmental synaptopathies consortium is announced. Link is in the show notes. Click on that link. And check it out. SRF shared Dr. Sahin’s post. Dr. Sahin posted the official press release. What is the developmental synaptopathies consortium? It is a part of the RDCRN. The what? The RDCRN is the rare disease clinical research network. Clinical research meaning in humans getting ready for clinical trials as opposed to scientific research, mice and cell lines and whatever. So, if you go to the RDCRN link, and the RDCRN is part of NCATS, which is part of NIH, right? So, just alphabet soup. But the NIH gives a lot of money. This is a flagship program for them of NCATS, the RDCRN, and then there’s a lot of different consortiums. There’s like the Brittle Bone Consortium and the This Consortium and the That Consortium and then the Developmental Synaptopathies. It’s kind of heartbreaking to read that list of consortium because you realize how many terrible diseases are out there. But we, our terrible disease is a developmental synaptopathy. The Developmental Synaptopathy Consortium, like all RDCRN things, picks diseases that they expect to be in clinical trial soon and works on them with an established, established network of leading clinicians to help them do research. Now you’re going to see a big number in that press release, eight point something million dollars. You’re like, oh, we got eight points. No, we didn’t. That eight point something million dollars is divided over five years, split between four diseases. Over multiple sites, so at the end of the day, everyone’s getting a little bit of money and that little bit of money is keeping clinics running. Because what I’ve learned— funding promises our own natural studies— is clinical work is crazy expensive. Because you’re paying for clinician time, you’re paying for hospital time, you’re paying for all the people who support the clinicians. It’s bonkers. Punchline. Don’t anchor on the $8 million. Right. Just anchor on the fact that Syngap is now part of this machine. It’s a five-year grant. So for the next five years, and hopefully we will renew with the next cycle and then it’ll be a 10-year grant but, the point is Syngap1 is on the map and the people in this network are really exceptional within this space. So now, the next time a Syngap parent goes in to see someone who may not have seen a Syngapian, even though they haven’t seen a Syngapian because they’re part of the RDCRN, the DSC. they’re going to understand our patients and be able to help our families more. So it’s really worthwhile and in fact, what we’ve talked to BCH about doing is giving some grants to them and to people in the network to beef up their knowledge of Syngap1, right? So right now, if you said, Mike, I need an expert. I want to participate. I would say, you got to go to a ProMMis site. You got to go to Stanford. You got to go to CHOP. You got to go to Colorado Children’s. And I would be right. Those are amazing sites. Have established programs for SYNGAP1. But we can’t get every patient in the country to them. And now that with the DSC, we will have more options. I still argue… Everybody should go to ProMMis, but getting all these other sites to start thinking about Syngap and working on their existing Syngap patients is a huge deal. We should be really grateful to Dr. Sahin and really excited about this. Annyway, look at that post on LinkedIn. If you want to see all the consortia, there’s an RDCRN link there too. I want to really give a shout out to SRF. Gettting these grants is hard. I want to be clear. Getting these grants is hard. And BCHK, Boston Children’s, came to us a few years ago and said, ‘Hey, we think we can apply and get SRF and get Syngap into the next DSC-RDCRN’, this was years with an s like three or four years ago and I was like, ‘All right, how would we do that?’ They’re like, ‘Well, you need to give us a big grant.’ I was like, ‘And then we’re going to collect a bunch of data and we’re going to use that data in our application to show that this is doable.’ Blah, blah, blah. And I was like, ‘Okay, let’s do it.’ But then they sent me the grant proposal and it was for $300,000, $300,000. That was a lot of money for SRF a few years ago. Frankly, it still is a lot of money for SRF. And I was like, ‘Nope,’ but we did it. We did it because we knew we were dealing with Dr. Paduri and Dr. Sahin and Dr. Levine, and these guys are the best and the brightest, and we wanted to improve the future for our kids, right? So that grant was given a few years ago, and that seeded this opportunity to be in the DSC. So good job, SRF. Good job for our longtime donors. Just to demonstrate for you guys, we think hard about the grants we give, the work we do and we try to do it in such a way that it leads to more better stuff over time and that is exactly what happened here. So this is a win and we should celebrate it and it’s going to result in more papers about Syngap1. And that matters because when you go to PubMed, which is my next link in the show notes, you can see how many papers there are about Syngap1 year on year. And right now that graph is climbing. It was 54 last year and it was 42. 2023, so now this year, so far, we are at 44, which means we have two more papers than we had in 2023. 10 less papers than we had in 2024. Why am I so obsessed with this chart because you know, papers don’t cure kids, but they sure help companies and researchers decide to keep working on Syngap when they see there’s an uptick, they see it’s interesting, and they see there’s a lot of good science out there. The most recent paper on Syngap1, at least that I’m aware of right now is this paper in cell by Dr. Boaz Levy and Megan Quinlan and others, who I mentioned in the LinkedIn post, which is in the show notes, click on that. Really exciting work about an AAV in mice, so just a reminder, there’s ASOs which are very precise small molecules that will be delivered intrathecally. meaning IT, meaning spinal. and go up to the brain, and inc help the good copy work harder or whatever, and make more Syngap. But as they work, like most drugs and small molecules they are consumed and then, three months, four months, however many months later, you got to go back and do it again. So you’re talking about two or three spinal taps a year. And frankly, sign me up. Sign me up. Like, I want us to get these drugs done. Let’s not, even think too hard about this IT thing. That is the safest, cleanest, most direct way to get the drug to the brain. The other kind of medicine is an AAV, and this can be delivered intrathecally, ICM. Other ways, I don’t want to get into that right now. But the difference between a gene therapy and an ASO is that a gene therapy is one and done, right? It gets in the AAV, the V is a virus. So the virus replicates and it spreads and that’s it. And because we have an immune system. The next time your body sees that virus, it may not accept it. People are working on changing this, whatever. Anyway. AAVs, very exciting medicine. And we’re going to have them soon as these mice and other efforts show us, but I think for the first disease-modifying therapy, I’m kind of glad CAMP4 is racing ahead because what I want to see first is just a naked ASO, no extra fancy science wrapped around it, just the drug, in the needle in the brain. Let’s see it work. Let’s show our kids are modifiable and be clear on what happens when they’re modified. And then, yeah, let’s go to the AAVs and just one and done. So super exciting. And frankly, after that, people are going to get an AV and then they’re going to want an ASO top up. It’s going to get crazy fast, guys. But this paper showing AAV working in mice is really exciting, and I really want to compliment the team. I got to keep going. Last week, we had a conference in Nashville, or not we, Combine, I’m on the board of Combined brain. So I say we, but combined brain had a conference in Nashville and I wasn’t able to go because it’s too much travel. But Kathryn and Vicky from our leadership were there. Kathryn is our CSO. Vicky Arteaga leads LATAM. Kathryn spoke. Vicky met with Terry Jo Bichelle, the founder and leader of Combined Brain. It was just great. It was a great conference. I heard so many good reports from everybody. Kathryn gave a great talk. And what you need to know as Syngap parents is that our patients and our community were really well represented before a group of serious leaders in this space. The combined brain really has people who are no nonsense and it was great and then so and then Melissa Smith came. She lived in Nashville and she wrote a post about it. And when she was coming back from her day, she wrote me, she’s like, ‘Wow, I met so many PAG, patient advocacy group leaders.’ And I heard Kathryn speak and we are doing so well. And I was so proud to be part of SRF. So thank you, Melissa. You are, you are. Your comments were much appreciated. So look at her post on LinkedIn. Look at Kathryn’s post on LinkedIn. And then just a personal reflection, we had a staff meeting the other day and I said, ‘Kathryn, how you doing?’ Shit, everything’s good. Life is good. It’s very exciting work. She said, but the hardest part is I barely see Joey right now because I’m traveling so much and he’s in a group home and between my travel and him being in a home, I don’t really have a chance to see my son that much. And I said, the irony there kind of broke my heart, right? She’s sitting here, working herself, so hard on behalf of the fund and all our patients. And as a result, she’s barely seeing her own son. Sort of breaks my heart. There’s two events coming up, guys. October 4th, Scramble for Syngap, South Carolina. Julie Miles is killing it down there. Go to that event in Greer, South Carolina. Support SRF. Raise money. We need the money. Our conference is in Atlanta, December 4th and 5th. You need to be there. You need to meet other Syngap parents. Bring your kid. Don’t bring your kid. It’s up to you. It’s going to be an amazing event. Links in the show notes. If you have questions, email us info at info@curesyngap1.org. Social media, guys. Follow us on LinkedIn and YouTube. Those followers matter. The reposts matter. The comments matter. It brings up our content. So when the next family gets diagnosed and types ‘Syngap1’ they find the fund. That’s what matters. CAMP4, by the way, closed at $3 the other day. Pretty exciting. Thanks for listening. I’ve kept this to 10 minutes. So  you guys stop making fun of me about that. It’s going to be great. I’ll see you guys next week. I’ll see you at the conference. Bye.