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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

business non-profit

All Episodes

00:19:53

SYNGAP1 is complex, we need to partner with our...

CURE SYNGAP1 Podcast ·

2024/01/23

Three patient stories… with the same conclusion, we don’t know enough about this disease. - VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/ - Little lady on Kepra finally getting a new drug. - Big man getting really odd care, based on EEG These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester

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00:13:26

2024 is off to a GREAT start. Time to get clinical,...

CURE SYNGAP1 Podcast ·

2024/01/13

All week on an article (coming soon), but still time to… Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/ See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8 Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol

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00:23:14

Happy New Year! Happy 10th Birthday Tony! Congrats...

CURE SYNGAP1 Podcast ·

2024/01/05

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data: https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment. Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Publications matter, we

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00:16:28

Over the break: Studies to do, Research & Press to...

CURE SYNGAP1 Podcast ·

2023/12/23

A few studies to make sure you are in over the holidays! One brand new! NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year

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00:10:15

Ciitizen continues to evolve, but essential aspects...

CURE SYNGAP1 Podcast ·

2023/12/15

Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127 12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/ 9/7/21 - Invitae Press Release Acquisition -

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00:06:54

A patient dosed, new site, audited financials,...

CURE SYNGAP1 Podcast ·

2023/12/13

Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan! Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org Finances, we have two years of audited financials on https://curesyngap1.org/finances/ There are two reviews of the SYNGAP1 Conference and one of AES you need to read S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ S1 https://www.draccon.com/dracaena-report/syngap2023 AES

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00:12:42

ICD-11, SYNGAP1 Adult Paper & Study, AES,...

CURE SYNGAP1 Podcast ·

2023/12/06

ICD-11 = LD90.Y #LD90Y https://x.com/cureSYNGAP1/status/1730629792137883800 Adult paper and study https://x.com/AledoNeuro/status/1726206128390848604 AES - Lots of SYNGAP1 incl paper with ciitizen data https://x.com/JillianLMcKee/status/1731420167672942878 RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers - Chow https://x.com/CNSdrughunter/status/1730233903602872424 - VUS https://x.com/CNSdrughunter/status/1730268276989571512 - Genetic Therapies

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00:13:08

Giving Tuesday, #SyngapConf, #FasterCures & Happy...

CURE SYNGAP1 Podcast ·

2023/11/19

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123 Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23 #SyngapConf https://Syngap.Fund/RT23 To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando! FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018 Bravo to Jess

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00:09:22

The more we own our EEGs, the sooner we get a...

CURE SYNGAP1 Podcast ·

2023/11/03

Three Todos: 1 - Come to the #SRFconf and be sure to buy dinner tickets! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz 3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 EEGS MATTER To get an EEG Biomarker, you need to

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00:10:55

Study Invitation - Everyone with a laptop can help us...

CURE SYNGAP1 Podcast ·

2023/11/01

We need endpoints and assessment tools. We can help make it happen with this study. Let’s get to 100 participants. #SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link Two papers already!! Development of informant-report neurobehavioral survey scales for PTEN hamartoma

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00:17:21

SYNGAP1 Missense Variants: SRF Awards Turku $100,000...

CURE SYNGAP1 Podcast ·

2023/10/25

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.” Types of mutations https://youtu.be/xYOK-yzUWSI SYNGAP1 on Alphafold https://alphafold.ebi.ac.uk/entry/F6SEU4 Dr. Underbake on Disordered/Unstructured Proteins https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 Common

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00:12:26

Meetings Matter. Join this community at the...

CURE SYNGAP1 Podcast ·

2023/10/24

#SyngapConf Conference Agenda Announced! https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf Register for the Conference! 37 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf Dinner is Separate - Join

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00:13:37

“I’m afraid to Hope again…” & Melissa – Reflections...

CURE SYNGAP1 Podcast ·

2023/10/10

My trip summary to CHOP. Melissa and her family are remarkable. “Doing this for the next generation.” Why are we afraid to hope? Because fear is winning. Everything comes from Fear or Love. Focus on the love. Feed that one. https://www.demellospirituality.com/love-or-fear/ https://www.urbanbalance.com/the-story-of-two-wolves/ #UFDCure Cannonball - October 4-6 $128,075.83 so far at

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00:15:16

#SyngapCensus, #UFDCure Cannonball, Scramble,...

CURE SYNGAP1 Podcast ·

2023/10/04

#SyngapCensus https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297#UFDCure Cannonball - October 4-6 https://www.syngapresearchfund.org/cannonball Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure Pre-party https://x.com/UFDTech/status/1709366677261987862 Scramble - October 7, 2023 Stories

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00:11:34

Plan on #RDW now, it’s been a banner week for high...

CURE SYNGAP1 Podcast ·

2023/09/29

CALLS TO ACTION Plan on Rare on the Hill - Week of February 25th in DC Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/ Apply for support https://www.surveymonkey.com/r/CJPHMS9 Take this survey Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM Tweet https://x.com/PedsGCAbby/status/1706446478904811750 Great papers Gastrointestinal

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00:12:55

Getting ready for Global Genes, Cannonball Scramble...

CURE SYNGAP1 Podcast ·

2023/09/19

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne - Katrien on the ILAE #SYNGAP10 #S10e115 Webinar coming up: Behaviour, Cognition and Sensory Processing in People with SYNGAP1 Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg Sept 28 @ 9am PT/ 5pm GMT Still

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00:12:43

Katrien Deckers reflects on European 🇪🇺 Epilepsy...

CURE SYNGAP1 Podcast ·

2023/09/17

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/ Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! -

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00:16:38

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica...

CURE SYNGAP1 Podcast ·

2023/09/10

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1::

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00:16:32

Fondo sets the bar for LatAm Engagement, Samar’s...

CURE SYNGAP1 Podcast ·

2023/09/02

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01 - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw - Spotify https://spotify.link/MJZZVMoKGCb - Amazon Music

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00:12:51

Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report,...

CURE SYNGAP1 Podcast ·

2023/08/18

Congratulations to Dr. Knowles, read our press release. https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy Check out the CSC Clinic at Stanford https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1 Don’t miss #S10e111 to learn about Dr. Helbig https://www.youtube.com/watch?v=i6EZUrqsn2g In you are coming to or near SF, please go to the

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191 results

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