CURE SYNGAP1 PODCAST aka SYNGAP10

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ )    Stoke Therapeutics #StokedAboutStoke Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential   I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN...

Do this study for UCB: https://Syngap. Fund/QOL24    Two killer publications: Boston - https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9  Penn/ENDD -  https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X  Email Info at CureSYNGAP1 dot org for PDFs!   Visit to UCSF - Exciting new proposal and wait for...

DC was epic, come next year! - Board Meeting and Leadership Team. - Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!   https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l - Last week of Feb, don’t miss it.   #RareBrewCoffee has launched! https://rarebrewcoffee.com/ use code SRF10   Reflecting on the la...

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200!   Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A     The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.   Repurp...

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611  B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011) C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011) D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015) De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellect...

TWO Gene therapy INDs approved in the past week! JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/ ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/     Mike’s Gene Therapy Cheat Sheet https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_...

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing.    #S10e131   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...

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...

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-regis...

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128   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 o...

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 - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Resear...

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/    S...

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...

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 htt...

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 retur...

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier  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-srf...

“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/Unstruct...

#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-con...

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 83.6%...

#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 https://www.syngapresearchfund....

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:...

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...

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)   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://Syng...

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  - Stor...

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   -...