Saturday, October 25, 2025. Week 43.
Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/
PUBMED at 47, and low. Clinical research!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date
- CHOP EEG ProMMiS https://www.neurology.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
- COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063
Doing surveys gets us into papers like ORCA, helps us raise awareness of SRD. This one on AI is really interesting: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=YFHYH7T7LTPAL44X
Newsletter #47
https://mailchi.mp/curesyngap1.org/unlock-their-tomorrow-issue47
IPM on SRD AAV https://www.insideprecisionmedicine.com/topics/precision-medicine/gene-therapy-reverses-syngap1-brain-disorder-symptoms-in-mice/
NYT Take on #Autism is very good, thank you Azeen Ghorayshi
Split the Autism Spectrum: https://www.nytimes.com/2025/10/01/health/autism-spectrum-neurodiversity-kennedy.html?unlocked_article_code=1.q08.NXEA.fg5ulHeTHUeJ&smid=url-share quotes Jackie K, explores argument for Profound & Severe Autism as a category.
Our own Jackie Kancir has a great substack, listen to it in her voice here: https://jkancir.substack.com/p/autism-is-not-my-daughter-nor-her
Sign up for Citizen Health:
https://www.citizen.health/partners/srf
CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU
SOCIALS
4,417 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,470 YouTube. https://www.youtube.com/@CureSYNGAP1
11k Twitter https://twitter.com/cureSYNGAP1
45k Insta https://www.instagram.com/curesyngap1/
Episode 187 of #Syngap10 #CureSYNGAP1
Below is a transcript from the video:
Mike Graglia
[00:00:00] My name is Michael Graglia. This is episode 187 of the CureSyngap1 podcast. Today is Saturday, October 25th. We’re in week 43. Before I even jump in, I want to remind you that right now you can apply to the EveryLife Foundation for financial support to go to Rare on the Hill. Rare on the Hill happens in February. It is a two-day event put on by the EveryLife Foundation. You fly out there. On day one, they give you a full briefing about all the issues. You learn how to give your talking points. On day two, they arrange for you all the meetings. You get to go to your congress people’s office, and you get to go to your senator people’s office, if that’s a word, and you get to give them the story about rare disease. If you haven’t noticed, like if you’ve been living in a bubble on another planet, Federal politics has gotten really weird lately, and it has never been more important to advocate. Whether you’re in a red state or a blue state, I don’t care. Get to know your legislators. Do this. If money is the problems, sign up now, apply for a scholarship. Please everyone, I want as many Syngap parents as possible there. I will definitely be there. That’s in February. Talk more about it later. PubMed is at 47 and PubMed is low. Why PubMed is federally funded? So there’s not enough people. So there’s not enough going on. But what you need to know is that it’s at 47 and that’s already the second highest year on record. PubMed counts how many publications have SYNGAP1. I want to give a shout out to two publications. Publication one, the CHOP EEG paper. This is where CHOP looks at EEGs from STXBP1, SCM1A, aka Dravet, and SYNGAP1, aka SYNGAP1-related disorders. Why does it matter? Because what they’re doing is they’re looking at EEGs, which are the squiggly lines when you have epilepsy and biomarkers, and they’re trying to figure out if there’s a specific biomarker to Syngap1. Why does this matter? Well, actually, it’s the Holy Grail. Because if we’ve got a biomarker, then when we start putting in these ASOs or AAVs and other disease-modifying therapies, if we can see the EEG changing, that’s a strong signal and we might see that signal sooner than we see our syngapians change. Why does that matter? That means faster trials. Why do faster trials matter? The faster the trial, the clearer the data, the sooner we get the drugs out. So amazing work! CHOP EEG team, by the way, where’d they get all these EEGs from? The natural history study. Sign up for promise. Sign up for promise, guys. If you’re on the fence on promise, I do not understand how you’ve missed these memos, but the memo is really, really clear, everybody. You are helping the community by sharing your data in these studies, and you are helping yourself by seeing the best living experts on Syngap1 and learning how you can best take care of your patient. Get your butt in there, I’m trying to be polite, and take part in the Promise Natural History Study. It is a huge part of the incredible progress we are making on SYNGAP1. Congratulations to the CHOP team on this epic paper. Another paper I want to give a shout out to, Dr. Christy Ziegler. She was at Duke. Now she’s somewhere else. I’ve lost track. Has been working for years on this paper on communication in multiple DEEs, developmental and epileptic encephalopathies, such as Syngap1. There’s 12 of us in there. Syngap is in there. I’m an author on the paper. Callie’s an author on the paper. I’m not quite sure why I’m an author on the paper. I think she just likes me. But Callie’s done a ton of work. That’s not true. I was doing some work for a while there too. And she also gives a thank you to Lauren and Corey. In the end, who helped a lot with recruiting. So anyway, there’s 12 Syngap patients. Families did interviews for that paper, and they’re really trying to understand— does everywhere disease? communicate differently or do we basically have very similar communication issues? And that lays the foundation for understanding that the ORCA can be used, the ORCA was designed for Angelman, if the ORCA can now be used across multiple diseases. So this is a really important paper. It lays the foundation beautifully. A lot of really great patient advocates on there as authors. Thank you, Dr. Sigler, for including us. Check out that paper if communication is of interest to you. Give it, maybe, to your speech therapist because it should be of interest to them. Mental note: I’m going to give it to my speech therapist. Anyway, thank you to the families who took part in those because, because you took part in that, Syngap is in that paper. Because Syngap is in that paper, more scientists and researchers understand Syngap. Because of that, there’ll be more therapies for Syngap. So here’s another survey I want you to take. This is a REDCap. A REDCap is just survey software coming out of Harvard. And they’re looking at AI in rare disease. They’re looking at, did AI help you get diagnosed? And I was like, no, because. There was no AI seven years ago, and we were diagnosed. And how do you use AI? And I’m like, I use AI for drug-drug interaction. I use AI to review my notes from meeting with my doctor. I use a citizen AI and I use. one of the GPTs out there. And then I also use AI to say, are there better drugs than what I’m on right now? And that has led to some interesting discussions with my doctors. And I want to know how you guys use AI. So take this survey. Let’s let someone at Harvard do all the hard work and write a paper and teach us how rare disease patients are using AI. I also want to give a huge shout out to Ed. Ed is a grandpa who works tirelessly for SRF. I wish more. Parents did that because all the parents are busy. And Ed is just— Ed sets the bar, but he wrote a beautiful newsletter that I want to go through really quickly because it covers so much ground. First of all, he talks about unlock there tomorrow the year is coming to an end we need to raise money we need to keep funding science we are so not done guys we are so not done and we need to raise money so unlock There Tomorrow is a beautiful analogy that our Syngapians have so much potential and we just have to unlock it. Please, set up a fundraiser for Unlock There Tomorrow. Ed talks about it. beautifully at the top, the conference is soon last day to register for the conference is in six days. The hotel is deadline is a week later. Get your rooms in Atlanta. It is going to be very fun. And it’s going to be an epic conference with industry partners, academic partners, research partners. It’s just going to be a very important conference. I can’t say more. Please come. If money is the only thing stopping you, let us know. We can waive registration fees. We can try to help you out. I want as many patients as possible there. Please come. Huge thank you to all our sponsors, by the way. Critical studies that are happening. Number one, Syngap1 Promise. I already talked about this. Make sure that you’re going to… Stanford, Colorado, or CHOP to get your Syngapian seen. There’s also a quality of life study being run right now. This is super important. Not only can we document how hard it is to raise a Syngapian and the impact it has on families, but with that hard data. in a peer-reviewed paper based on an IRB-approved study. We can say to the FDA, the burden on families is massive and you should accelerate this. You need to fix this disease. And that matters, guys. So if there’s one thing you take away from this news… that are aside from setting up a fundraiser. It’s do this quality of life survey. It is so important. Links in the newsletter, which is in the show notes. If I put all the newsletter links in the show notes, the show notes get too long, things break. I also want to give a shout out to the Emerald Study being run by, coming out of our friends at Praxis. If you have a patient with countable motor seizures, please consider the Emerald Study. It is promising. That molecule is really promising. Also, there’s a thing in there about a crit. Please get a credit if you’re taking part in multiple studies so we can keep track of people. AI advocate out. If you’re not in Citizen, sign up for Citizen. In addition to all the many things I’ve talked about so many times before, there’s also an AI advocate in there, which means an AI that has access to your medical records. It’s private, it’s firewall, etc. But you can ask it questions about your medical records. Truly an amazing tool. Love it. Ed gives a shout out to the census 1675, he also gives shout outs to the blog where we talk about the importance of extended family handouts for your family for your teachers and greater articles about the Gala and the Beacon of Hope. There’s warrior movies in there of Emmy and Trajan, beautiful little Syngapians. There’s also shout-outs to other podcasts. Syngap Stories is where one parent interviews. And Virginia’s in that one. Don’t miss that. Can’t thank Virginia enough for her leadership. And then, of course, Cafe Singapuno, episode 32 for the Spanish-speaking community. Such great work. And then there’s some cute pictures about Singapians. I’m trying to move fast. I’m trying to keep this under 10 minutes, but people. Read the newsletter, take that quality of life survey. Moving on, there’s an article, and I want to talk about press for just a minute. Inside Precision Medicine has an article about the SRDAV. The AAV is a gene therapy that was done on rats at the Allen Institute. A lot of people have shared this and talked about it. This is super exciting because if that scientist can either get money for his own company or license it to a company—this will be another modality. So right now, the camp four would be an ASO. And then this would be an AAV. The ASO is going to come first. If you do an ASO, it’s not going to disqualify you from doing an AAV. My general rule is: if your kid qualifies for a trial, sign up for it. Don’t try to optimize. Just if the door of opportunity is open, walk through it right now. Take the money and run, as they say. So anyway, you should be tracking this stuff. And this article about this SRDAV is really interesting and really well written. And it’s not in Science Gobbledygook. It’s kind of in English. So read that. Speaking of great science journalism, there’s an article in the New York Times about autism. This whole autism thing has been raised by federal attention, right? But the thing to remember is we, our kids, have autism. Why? Because they have a mutation in SYNGAP1. Why do they have a mutation in SYNGAP1? Bad luck. Everyone has mutations. Everyone has mutations when sperm meets egg. But sometimes those mutations are in places that don’t matter, and sometimes they’re in places that really matter, like our kids, because they have it in Syngap1. So we know our kids have autism, but the rest of the parents out there with autism, and they don’t have a genetic etiology, they’re like, ‘What’s going on?’ And so we have this whole thing, and then the autism spectrum gets expanded. Complicated and it’s thorny, and this article is written really well. I have a gift article for you. Links in the show notes. Jackie can see her also has an amazing substack about autism. Jackie is quoted in that autism article. She’s a Syngap mom, she’s a professional in the advocacy space, but I really endorse her substack. It’s so beautifully written. Please read it there’s a thing on Tylenol in there. I don’t know why people are worked up, but whatever. If you are a new family, make sure you sign up for Syngap Health. And remember, everybody you should be coming to the conference. The last day to sign up is in six days. Register. Call us if money’s a problem. And also use your ICD-10 code in clinical visits. Links in the show notes. Follow us on LinkedIn, YouTube, etc. This has been episode 187 of the Cure Syngap1 podcast. I look forward to seeing everybody at the conference. Sorry, I’m talking fast, but I’m really trying to keep these to 10 minutes now that I’ve changed the name. Thank you very much. See you soon.