GALA is now, #StokedAboutStoke, Go Grann, Our Villages, CHOP/NIH, More on Elopement. #S10e179
Friday, August 22nd, 2025. Week 34.
The 5th Annual Gala is happening now!
https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ
cureSYNGAP1.org/Gala5
Sad to miss it? Join us in Boston or South Carolina.
Beacon of Hope September 12, 2025 – Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 – Greer, SC cureSYNGAP1.org/Scramble
Stoke Therapeutics indicates they will have a target for SYNGAP1 in 2026!
12 Aug 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP1 in 2026. SYNGAP1 is a severe and rare genetic neurodevelopmental disease.”
Just over 20 FDA approved Oligos and siRNAs today. We are still so early.
Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable.
The SYNGAP1 Village: How Extended Family Can Provide Vital Support
Here’s a fun topic to discuss with your family, brain donation.
55yo with Dravet, lots of insights, Brava to Dr. Andrade and team!
SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts. 8/20/25 Letter can be viewed in SRF Public-facing drive
Philadelphia Inquirer picked up the story 8/20/25
More on #Elopement: Alarms, Roofs, Resonated. Keep talking to doctors about this. Post is up to 139 Votes, percentages little changed, join the conversation on FB.
S10e178
SHARE BLOOD TO THE SRF BIOBANK AT CB!
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
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NEWLY DIAGNOSED?
Next New Family Webinar – Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled!
Resources – https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families
Podcasts, give all of these a five star review!
https://cureSYNGAP1.org/SRFApple
Episode 179 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Below is a transcript from the video:
Mike Graglia
[00:00:00] Hello, Syngap land. My name is Mike Graglia. Today is Friday, August 22nd, and this is episode 179 of the Cure Syngap1 podcast. This episode is going to be a bit of a ping-pong ball. There’s a lot going on. I’m going to bounce around to a lot of topics. It took me a while to put these notes together, but please stay with me and stay with me until the end. There’s a lot of good stuff here. First thing I want to acknowledge is that, as I make this recording at four o’clock on Friday afternoon, it is seven o’clock in Farmingdale, New Jersey. Where the fifth annual Syngap Gala is happening under the leadership of John Hill and Nancy Kessler, who had the inaugural Syngap Gala for Karen Lieb. And there’s many other members of our community who are there tonight having a good time raising money for SRF and for the important work that we do. So curesyngap1.org/gala5. If you want to go to the link and probably by the time this gets out there the auction will be closed but awesome work, guys. Can’t wait to hear about it. Can’t wait to see the pictures. Really proud of Nancy and the whole team for making this happen year after year and building a community, not just around Karen, who’s Nancy’s sister, one of the oldest known Syngapians. But for all the Syngapians in the New York metro slash Jersey area who are connecting and being together right now, it’s just so good to have an event and I really want to, I’m really jealous at this point. I really want to have an event in the Bay Area next year, but I cannot do it alone. So there’s a shout out to all the California families. Let’s get it committee together and do a fundraiser in the Bay Area next year. If you’re sorry to miss this, please join me. I will be flying all the way to Boston on September 12th for the inaugural Beacon of Hope event there, which will hopefully also become an annual event. And then you can also go down to Greer, South Carolina, where Julie Miles will be hosting an awesome golf event, the Scramble, on October 4th. I made a joke in the last episode that maybe after the hurricane. Greer, South Carolina may not make it, but if it does, we should all go to the scramble. I received a very kind email from Julie, complete with a geography lesson. I am assured that Greer, South Carolina is nowhere near the ocean and the event will be happening. Apologies, Julie. Stoke Therapeutics, guys. On a serious note, 10 days ago. They had an incredible press release and shame on me for not. Getting excited and doing an episode right away. As you all know, it’s summer. Kids just went back to school yesterday or the day before. I don’t even know. And I’m a little behind. So, 10 days later, let’s read the most exciting bullet in a press release by the publicly traded company Stoke Therapeutics to their investors. Lead optimization, this is the quote, lead optimization is underway to identify a clinical candidate for the treatment of Syngap-1 in 2026. Syngap-1 is a severe and rare genetic neurodevelopmental disease. I’m assuming they’ve got a new comms person at Stoke, and this person thinks that you write Syngap with a dash. I’m pretty sure they’re talking about our disease, also known as Syngap1, no dash. But I’m willing to get over the dash. I am thrilled that they have publicly committed to have a named candidate. And this is a big deal. This is a big deal. When a company says we are working on you know random collection of letters and numbers here and this is our candidate for disease, whatever that is a big commitment that’s a signal to the market that they’re working on it and they’re serious and they plan on bringing it to trials so these are not words um that were taken lightly when they were added to a public-facing press release by a publicly traded company. Links in the show notes, read the press release. It talks mainly about Stokes’ important work with Dravet and their phase three drug. That phase three clinical trial, the first patient has been dosed and they’re rolling out. I think the countries listed were US, EU, and Japan. I’m not going to open it because it’ll mess up my screen. But the punchline is, guys, Stoke Therapeutics, a large biotech, doing really important work on Dravet, learning how to do trials at scale. And next on their list in the brain is Syngap. They’re also doing an optical thing, but optical is so easy. Just the eyes right there. You just put the medicine in. I mean, the brain is where it’s at. And I think the fact that Stoke is basically committing to have a candidate next year is a really good sign. It means that on top of the work CAMP4 is doing, we will soon have multiple biotechs working on Syngap1. And that is exactly where you want to be. You want multiple companies talking about our disease working together slash competing to have clinical trials and have the best possible medicine. So this is huge news and I’m thrilled and massive congratulations to the exceptional team at Stoke. I was reading another article, actually, about CAMP4. It was with the CAMP4 head of manufacturing or something, I think. And links in the show notes. It’s talking about how CAMP4 is continuing to improve on their oligo manufacturing and that’s interesting that should be interesting to you by itself, because we’re all hoping that CAMP4 actually, who already has a named candidate, by the way, will be running clinical trials early next year. And the first phase one, two clinical trials, guys, there’s going to be like a handful of people. In those but after phase one, two comes phase three and those are big so really exciting and interesting to read about how CAMP4 is kind of pushing the limits or part of the cutting edge of oligo manufacturing. But there’s also a quote in that article that struck me. We have just over 20 approved oligos and siRNAs today. Just over. 20 FDA-approved oligos and siRNAs today in the market, right. It’s enough that we’re not guinea pigs like we know what we’re doing. And, you know, at the point now we’re reading articles about how they’re improving manufacturing and scaling. But we’re still really in the early days of this and that is exciting because it tells you that the work we are doing at SRF matters and is having an impact. Becasue there’s a lot of diseases that are desperate to have companies naming assets and working on them and we are one of them and that is in part because of just dumb luck. We are terribly unlucky to have this horrible disease, but we are fortunate that it is so bad. Genetically speaking, pretty clean as a haploid insufficiency, the companies are comfortable investing in it. So it’s part dumb luck. I’m always going to acknowledge that because it’s better to be lucky than good. And We have worked really hard and as a community, we have come together. We’ve raised real money. We’ve done smart things. And that has helped give industry the confidence to work on our gene. Sp, let’s hope that by the time someone’s saying there’s just over 30 oligos and siRNAs, Syngap is on that list. Who knows? Who knows? Let’s see. I was wanting to get a personal reflection a few weeks ago now. We got a phone call from Monica. Now, if you were at the conference last year, remember we had a conference with SLC6A1 led by Amber Freed. Syngap Research Fund, which is us. And GABA, which is led by Monica, and she called me up the other about a month ago and said, ‘Hey, can you come to LA tomorrow?’ And I was like, ‘No.’ Not planning on going to LA. She’s like, ‘No, no, I want you to come. I want you to be at this thing.’ And I was like, ‘OK, I’ll go.’I’ll come down to L.A.’ And the thing was, she had developed a medicine with a company called Grand Therapeutics. and they were dosing her daughter the next day and, based on the time that we had spent together, she gave me the great honor of inviting me to be in the room with a bunch of other family friends and whatever. When her daughter received this medicine that was made just for her, basically. That’s not true. It was made for her disease, Rhett. And it was really novel. It was LNP delivery of RNA. I’m going to butcher it. Read the press release. Press release in the notes. It was a novel medicine. And it was going into Eleanor. And I got to be in the room. And it was real, guys. It was real. Like everything Monica does, it was a class act. It was well thought out. All the players were Top shelf. But huge congratulations to Grand Therapeutics and to Monica and to little Eleanor. And I really hope that this novel medicine works. And when we find out that it is working and that we are seeing positive benefits, we can start talking about scaling that up to maybe our disease too. So I just want to thank Monica for having us in the room. And I want to compliment Tommy and the team at Grand Therapeutics for what they’ve pulled off. It’s a press release not to miss. And if you’re an industry insider, read it because there’s a lot of wow in there. Now I want to talk about, I want to get to something that we recently put out, which was this Village article. Go to curesyngap1.org/village. That is the short link to the full link, which I’m not going to read to you. And basically, this is an article, and I’m sure Ed was involved in this, where we talk about how extended family can provide vital support for Syngap families. And I really want to talk about this. First of all, we talk in this article. Is John Hill. John is like a father-in-law, I think? Or the family tree’s confusing, but like. It’s not his kid. It’s like his, it’s like a whole generation down. And then. In Mississippi, Nathan’s grandparents are there helping Nathan. Miller Miles, of the aforementioned, whose mom is Julie Miles. Terry Eswin is his grandmother, and she’s all in with the family and helping. And then, of course, Ed is helping so much with Cole. Both by being an amazing grandpa and giving his his daughter a break every now and then but also all the incredible work he does with SRF comms. I mean, his contribution is invaluable. And I can’t understate it. And then what the end of this article says is, you know, emotional support, be their anchor. Practical assistant, lend a holding hand. Three, financial contributions. If you can help them, help them. This is an expensive life. I’m volunteering. Get involved with SRF. Host a fundraiser. Come to the conference. Everyone should come to the conference, by the way. And advocacy, you know, be their champion. Learn about this disease. Help them with the discussions with schools and aides and ABA and the police and elopement and all the things. So it was just a really well done article. And I got to be honest with you. I wish, I had had this article when Tony was diagnosed because there was a couple of years there where my family was like, ‘you guys got to figure out what you’re doing with this kid.’ Like my parents have had four kids and they, they had a lot of, they got kids and grandkids running around and they looked at Tony and they were like, ‘I don’t know what you guys are doing, but you got to get your act together.’ Like it was our fault. And this is one of the reasons why I’m so brutal with newly diagnosed families, because they’re looking at their kid, they’re like, ‘Maybe it’s not that bad and I’m like, ‘I hate to break this to you, but as these kids get bigger and stronger, the symptoms get more severe, and, like, zero to ten is it just keeps getting tougher.’ Then, 10 to 20, keeps getting tough. Apparently, at 20, things kind of level out a bit. But the first decade or so, man, this is rough. And I think. I”m conflating two issues. I think extended family has a huge opportunity to help. And if they say, ‘How can I help?’ Send them this article. And if you don’t engage extended family and help them understand Syngap and get them to wrap their heads around it. It could actually be a source of friction and frustration in your family, as it has been in mine, frankly. So I really want to just, thank Ed for writing this article, or Ed and Joe and whoever else was involved. It’s an exceptional article, and the people who were called out on it definitely deserve to be called out on it. All of them are doing amazing work with amazing families, and their kids are having better lives as a result of it, for sure. And then once you have that conversation, I want to see how I told you I was going to bounce around today. You know, a fun thing to talk about is brain donation, right? So hopefully our kids will all outlive us. That’s the plan. But you never know. And maybe it’s not our kids. Maybe it’s our sibling. Like I’m thinking about Nancy and Karen right now. If from natural causes or unnatural causes or pneumonia or all sorts of terrible things we don’t even need to name, your Syngapian passes. I know it’s not like going to be top of mind, which is why I’m bringing it up now, but you have an opportunity to donate their brain to science. And there is an organization that we have vetted and that we work with called Autism Brain Net. They are top shelf. They are part of the Simons Foundation. They do everything, really exceptionally well. They are active in Europe. They are active in Canada. They are active in the US. and there’s an 800 number there where you can register with them. And basically, you get all the silly paperwork out of the way. So, that, God forbid, your loved one with Syngap passes, you can just call them and be like, ‘Hey, I want you guys to come and get this brain.’ And they will move. Crazy fast like crazy fast because these brains they don’t you know they don’t they don’t keep well. Um, Why would we do that, Mike? Why are you talking to us about our loved ones dying and getting their brains? Well, we learn a lot from their brains. Example, and this is why I brought this up right now, there’s a paper I share the link to by Dr. Andrade. You’ve heard Andrade’s name before because we are funding her to do work on adults with Syngap. So she is by far the global leading expert on NDDs in adults. Everyone studies the heck out of the kids. Two to five and whatever, but all these kids are going to grow up into adults. And then we, we know precious little about them. So we’ve, we’ve raised money and we’ve, we’ve funded Dr. Andrade to study adults and make sure the adult doctors have a clue what they’re dealing with. But in addition to that, she works a lot on a few other diseases, especially Dravet. Everyone starts with Dravet. And so there’s this paper she wrote about a 55-year-old with Dravet who passed, and they analyzed her brain and they were like, ‘Wow, this is some stuff in here that tells us maybe what’s going on in adults with Dravet.’ And I know none of us want our loved ones with Syngap to predecease us, but if they do, hen they do brain donation is an option. It can be done in such a way that you could still do an open casket, you could still see them, you could still love them. But getting that brain would advance science, and it’s it’s it would be a horrible time to fill out paperwork. So if you’re in if you understand the benefit of sharing the brain with science and you’re willing to consider it, autismbrainnet.org. Check out that paper by Dr. Andrade. Just read it. It’s a pretty short paper, but the insights and the takeaways are really important. And It tells us that there’s a lot more to learn about our loved ones with these crazy diseases. I want to also, back to SRF, I want to compliment Jackie Kancier. SRF was a signatory to a letter. Along with CHOP and Wistar and other Philly area research institutions to legislators to fight the cuts to the NIH. Of course, the NIH cuts translate directly to these institutions we work with. CHOP is a huge institution. It does an incredible amount of work, and part of that is with NIH funding. So the letter, share the link in the show notes. You can read it if you’re curious about this topic. The Philly Inquirer picked up this story and wrote about it. I think it was a paywall, but share that link in the show notes too. Just showing you that SRF, we’re functioning on all levels here, guys. We’re trying to support parents. We’re having fundraisers. We’re engaging with industry, and we’re joining our important academic collaborators to fight for continued funding and continued science leadership in the U. S., frankly. So really proud of the team at SRF for the continued engagement here. And I’m so happy to see our name on that letter. I talked in the last episode, episode 178, about elopement. And if you have not watched episode 178, if you’re new to this party, please go check out episode 178. It really resonated with people. And I just want to make a couple of observations. The first is a lot of people talked about their alarms and their alarm systems. One of the things I didn’t say is, you know, we have a home alarm and we put it on when we leave for the weekend or go on trips. We don’t really put it on every night at least we didn’t. And, after this Tony elopement thing, that sucker is on, baby, every night. And if Tony were to elope, and he hasn’t done it since, by the way. Thank you. We would all wake up pretty quickly and we would know that an external door had been opened. So that’s one thing to do. We also put that annoying chime on so every time anyone ever opens the door, ding, ding, and you’re like, ‘Oh my God.’ But. It’s what you got to do. I also heard a lot of stories, a lot meaning three or four different stories from Syngap families about. He was in his room and I thought he was fine and the door was closed and he was calming down. And next thing I know, he’s on the roof. She’s on the roof. He’s on the roof and his little brother, single-digit. Followed him on the roof and was trying to talk his big brother off the roof. And if they had slipped, they would both have died immediately. There was a lot of they eloped to the roof. And I share that with you guys because if you’ve got your kid in a second-story bedroom, like I do, you need to really think about, okay. How would that work? And I don’t have a great answer right now. But part of this podcast is to help the community learn from each other. So I’m just letting you know this topic of elopement really resonated. If you’ve got a little one, you’re like, ‘Oh, it’s so cute when they run away.’ They get bigger, they run faster. Think about elopement. Keep talking to your doctors about this. When I talked about this last time, the post had about 100 votes. Now we have about 139 votes. Links in the show notes. Go to the Facebook group. Join the conversation if you want. The percentage is a little changed. It’s like 41% male, 39% female eloping. The balance, not a little bit. This is a serious issue with Syngap, guys. All right, wrapping up. Conference is in 103 days. Register now. Come and join us in Atlanta. It’s going to be an amazing event. A lot of exciting news coming up. Honestly, I know I’ve talked a lot, but I haven’t even told you guys some of the great stuff that I know about that is still in flight. So it’s amazing. Publications are up to 38. That’s great. If you haven’t given to the biobank, please do. We will be collecting at the conference. I would love to see you there. If you haven’t volunteered yet, please volunteer with SRF, LinkedIn, YouTube. They matter a lot. Make sure you’re following us there. Please like and amplify our content. New Families webinar on Tuesday, September 9th. Go meet, Virginie and check out all the resources we have links in the show notes. This is a podcast. Please give it five stars. Help others find it and know that they are not alone in this crazy life. This crazy life, loving a Syngapian. And just to end where I started, there is a gala happening in New Jersey right now. And if you’re not there tonight, but you’re close, you should be there, frankly. And you should book a ticket for next year. But in the meantime. Just come to Boston on September 12th and come to the conference in 103 days. Have a wonderful week, guys. Thanks for listening.