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PODCAST

CURE SYNGAP1 Podcast

Mike Graglia, CURE SYNGAP1

The CURE SYNGAP1 Podcast is a weekly blog to keep parents and families up to date on what the team at CURE SYNGAP1 is doing to advocate for patients and advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think. There are over 1,675 diagnosed patients on earth according to SRF"s #SyngapCensus. If you are related to one of those patients or are a researcher or clinician interested in SYNGAP1, this podcast is for you. Learn more at

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All Episodes

00:19:51

How to talk about #ELOPEMENT in #SYNGAP1 with...

CURE SYNGAP1 Podcast ·

2025/08/19

Tony (11, M) Story. Now we sleep with the alarm on every night.Elopement: involves leaving a safe or supervised area without permission.poses a risk to the individual's safety.can occur in various settings.is a common behavior in individuals with ASD.Virginie (10, M) Stories and Service Dog.Single Mom (9, M) heading to the judge and calls me asking for papers. Here you go…Let’s note that Elopement was masked behind broader buckets and I think this is a miss. We need to name and discuss this

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00:14:14

Embracing Complexity, Another Pipeline Neuren Pharma,...

CURE SYNGAP1 Podcast ·

2025/08/09

Friday, August 8th, 2025. Week 32.CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing.Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/ Blog on DCM: https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ My comments at the 2024

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00:16:43

Why join the Relutrigine study from Praxis for DEEs...

CURE SYNGAP1 Podcast ·

2025/07/30

Wed July 30, 2025Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/Action: If your kid has motor seizures, fill out the screener and join this amazing study.Link here: https://www.resiliencestudies.com/emeraldA motor seizure is a seizure where

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00:17:01

Global Overview of SYNGAP1 Natural History Studies -...

CURE SYNGAP1 Podcast ·

2025/07/17

July 16, 2025. Week 29.What is a natural history study (NHS)? And why do we care?We care because we haven’t done this before, heal those born with disease.Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment

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00:15:51

CENSUS, SYNGAP1. It is racing to a better future b/c...

CURE SYNGAP1 Podcast ·

2025/07/07

July 7, 2025 Week 28ADAMS CAMPhttps://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/ CENSUS & WHY WE WILL SEE MORE PATIENTSAAP recommends Whole Exome as a first line test for GDD/ID.https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that

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00:27:45

TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY...

CURE SYNGAP1 Podcast ·

2025/06/20

It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIOhttps://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua CURE SYNGAP1 CONNECThttps://curesyngap1.org/curesyngap1connect/CAMP4 Update - Hear it from

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00:43:42

CAMP4, JAX and Allen present about ASCGT, JHU...

CURE SYNGAP1 Podcast ·

2025/05/19

Sunday May 18, 2025. Week 21Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ CAMP4Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disordersDr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVoPresentation at ASGCT: https://investors.camp4tx.com/news-events/presentationsGETA Talk:

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00:09:44

ADULT 🇵🇹 🇫🇷 🇪🇸 🇳🇱 🇬🇧 🇨🇦 caregivers PLEASE complete...

CURE SYNGAP1 Podcast ·

2025/05/01

Email: Ilakkiah.Chandran@uhn.ca about this study!Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults! It’s worse. There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important. BTW, soon we will have treated and untreated! Dr. Andrade and her team are the best in the world.

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00:15:25

#S10e170 - Sprint is tomorrow! WODC Update. ASOs...

CURE SYNGAP1 Podcast ·

2025/04/26

Friday, April 25, 2025 - DNA DayGood luck at Sprint tomorrow. $194k at this moment.WODC ReadoutSaw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E)RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar. (Other Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and

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00:15:38

ProMMiS Data Webinar up! New Board Sprint4SynGAP @...

CURE SYNGAP1 Podcast ·

2025/04/15

Tuesday, April 15, 2025 – Week 16CURRENT NEWS#Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas! Board Announcement: https://www.eurekalert.org/news-releases/1080490LEARNING ABOUT SYNGAP1ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in

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00:21:53

Time to Lean In FEROCIOUSLY on Clinical Trial...

CURE SYNGAP1 Podcast ·

2025/04/10

Wednesday, April 9, 2025 – Week 15Condolences to the Brimsek family and thank you John & Tobi for all your support. We just shared an interview with our board member and John’s son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories Trip Report, two crazy days. Many takeaways. Trials may be coming soon. If there is a trail, sign up. Every time. khuba@jcu.edu Do the Frazier Study and do the follow-ups! https://curesyngap1.org/eye2 Global as well. Australia, UK, Canada, please help.We are

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00:15:17

Global CTR Survey, Two New PRs, Sprint4Syngap Hype &...

CURE SYNGAP1 Podcast ·

2025/03/26

Wednesday, March 26, 2025 – Week 13#S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever. Don’t miss it, or the comments. Feel free to add to them!One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia. Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8Since CHCO PR in #S10e164, we have had two more: Dallman & SohalPR36 for GI meds:

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00:25:08

SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID &...

CURE SYNGAP1 Podcast ·

2025/03/18

Tuesday, March 18, 2025 - Week 12SYNGAP1 & Unmet NeedPreface Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories. This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you.SRD is slow moving, but suddenly

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00:10:10

Save Medicaid: A Critical Moment for Our Loved Ones -...

CURE SYNGAP1 Podcast ·

2025/03/12

Tuesday, March 11, 2025 - Week 11Special guest host, Monica Meyer, SYNGAP1 mom to Michael, advocate & educatorPlease give my video a watch and SAVE MEDICAID!Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing. For over 30 years, I’ve been advocating at

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00:17:37

Tell me your UnMet Need. CHCO ProMMiS! Gut Paper with...

CURE SYNGAP1 Podcast ·

2025/03/12

Tuesday, March 11, 2025 - Week 11CHCO Press Releasehttps://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot orgSYNGAP1 ProMMiS #SynGAProMMiShttps://curesyngap1.org/resources/studies/syngap1-prommis/Need your Voice on Unmet NeedPlease contact me with stories and permission to share. Mike@ PubMed is at 11

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00:26:09

RDD25 - Federal Funding - Hope vs Despair? Disability...

CURE SYNGAP1 Podcast ·

2025/03/01

RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163Friday, February 28, 2025 - Week 9Hope vs. Despair?Despair: NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share FDA Staffing

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00:18:18

We are on the Hill Advocating for a better future –...

CURE SYNGAP1 Podcast ·

2025/02/25

Tuesday, February 25, 2025 - Week 9ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Weekhttps://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS SPRINT4SYNGAP - April 26, 2025Webinar: cureSYNGAP1.org/S4S25Guide: cureSYNGAP1.org/S4SGuideLEVERAGE ON OUR GRANTS#Finland #Missense:

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00:16:04

Impact Report is out! Read the Stanford Knowles...

CURE SYNGAP1 Podcast ·

2025/02/12

Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem.- #S10e161Tuesday, February 11, 2025 - Week 7IMPACT REPORT IS OUT!Impact Page:https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/ Press Release:https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/STUDIES OF THE WEEK -BEACON

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00:14:16

Don’t give up on your SYNGAPian at any age, Go Aaron!...

CURE SYNGAP1 Podcast ·

2025/02/04

Tuesday, February 4, 2025 - Week 6CONVO - Parent of 18 year old Travel now. Get meds under control fast Don’t do this alone Don’t give up on the adults Find doctors who want to learn and think, not dictate. STUDIES OF THE WEEK - FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Don’t underestimate this tool, please take part in this study. Tracker page:

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00:14:18

Study Spotlight: Rochester 3 Needs Toddlers,...

CURE SYNGAP1 Podcast ·

2025/01/28

Tuesday, January 28, 2025 - Week 5STUDIES OF THE WEEK - ROCHESTER 3 We need 3 more 0-2 Year olds. https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/ NYU - CureSYNGAP1.org/NYU https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/ Tracker page:

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