CURE SYNGAP1 PODCAST aka SYNGAP10

SRF BY THE NUMBERS IN 2022 Twitter https://twitter.com/JMGraglia/status/1610633778015383552 Source https://www.syngapresearchfund.org/post/srf-2022-the-year-in-review-by-the-numbers   GREAT PRESS Diagnosis of a 40 year old #SYNGAPian Twitter https://twitter.com/cureSYNGAP1/status/1610656947447169025 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZd...

PRE-REGISTER FOR NEXT YEAR https://twitter.com/cureSYNGAP1/status/1608462863819067397 https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform     Buy this book on Amazon or on JR’s website - #MoreOfEverthing by JR https://janiereade.com/ https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL     JACKIE KANCIR STORY https://w...

#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85   Dr. Grinspan on AES https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022     Dr. Dennis Lal on AES & Genetics https://twitter.com/LalDennis/status/1600617199110070286 Mi...

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84 Targeting Epilepsy Meeting at St. Jude: https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-detai...

#ASO in episode #S10e80 : https://youtu.be/xeo94GViXiw?t=240 I am #StokedAboutStoke  BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ   Regist...

Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE   #S10e82 ATLANTA was an incredible event and a success for more reasons than you think - Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY - Family connection is everything - Raised funds from Atlanta community, it’s us folks. Real but not True: https://www.psychologytoday.com/us/blog/finding-tr...

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap   Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present   PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN...

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/   Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888     CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html   Total: https://www.justgiving.com/fundraising/ufd-cftc-2022   Tweet: https://twitter.com/UFDTech/status/15856...

CANNONBALL! Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022 Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIo UPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8 Twitch: https://www.twitch.tv/ufdisciple Brett: https://twitter.com/UFDTech Peter: https://twitter.com/phalliburton Kevin: https://fryereeves.com/kevin-w-frye/   VISITS Pavel: https...

EVENT RECAPS October 8th -New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala   - South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap UPCOMING EVENTS 8 Days: - October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER...

INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY! https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984 https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3    GRANT ALERT Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873 COMPANY UPDATE Stoke Tx https://www.stoketherapeutics.com/ Praxis...

EVERY PATIENT MATTERS Lots of work with doctors these days. e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706 e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 WE ARE GLOBAL SRF Site is now in all Languages! Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-tha...

GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules… #GlobalGenes #CareAboutRare EVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8...

Praxis + Ciitizen = PROGRESS #S10e74 PRAXIS & CIITIZEN   Webinar On-Demand Registration - https://pages.questexinfo.com/invitaereg09082022/   Twitter - https://twitter.com/cureSYNGAP1/status/1568223901628637184?s=20&t=_UdtyirDq-dfLJD9Eo3GPw/  Facebook - https://www.facebook.com/cureSYNGAP1/posts/pfbid02usJYQPSQEr5yrUkhkfmcwhfit6WLgUFK56VXCaEVypCuVvxNb74pnkTiXqgZsdFtl/  LinkedIn - https://www.linke...

  SRF Page on Leon - https://www.syngapresearchfund.org/leon   SRF Grant with Leon & Friends - https://www.eurekalert.org/news-releases/957967   Light a candle for Leon - https://www.bestattung-huettner.at/sterbefall/52048/ SRF on Social for Leon - https://www.facebook.com/cureSYNGAP1/posts/pfbid0RqALzmaTh8zGeT1KMUbfiXgv9o7PPR2JJPcZNPpR91ce7tYz5foWmb47652r8c2Ml   - https://twitter.com/cureSYNGAP1/...

0. SUPPORT OUR PATIENT IN UKRAINE Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/   Tweet: https://twitter.com/JMGraglia/status/1563362473327005698     1. LONGBOARD PHARMA & RAREBASE Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY   2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64...

0. RAREBASE https://www.rarebase.org/ We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s Now we are doing phase 2… stay tuned.   1. LONGBOARD PHARMA https://www.longboardpharma.com/  STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI )   TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E...

REFRESH RECORDS COLLECTION  Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.   SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research st...

First grant: You can learn more about the Courtney grant in episode 66? #s10e66  https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel). Second grant: Here is the press release and social media on the Bowie grant.  - Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514   - Twitter:  https://twitter.com/curesyngap1/status/1552642957546700800  -...

Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).   Monday  - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/def...

COMMUNITY  Two blogs you must read: - Charlie https://syngap.fund/charlie  - MDBR https://syngap.fund/unite    Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w    LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting?  Well now you can go too: https://dra...

#SyngapCensus for 2q22 is 1098!  https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022   Incidence and Prevalence Article https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed     GRANT TO COURTNEY LAB - Spread the word -Twitter: https://twitter.com/JMGraglia/status/1544634675808722946   -LinkedIn: https:...

WEBINARS - Susan on Fundraising: https://syngap.fund/susan   - Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie   - Sign up! https://www.ciitizen.com/syngap1/     FUNDRAISERS  - SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/    - MICE: Help us Make 2!  https://syngap.fund/2mice   DRAVET...

TELL EVERYONE - New mom chat - Kali’s article and twitter      - https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6       - https://twitter.com/WorthKali - Tavillas: https://syngap.fund/susan (6/22/15)   CHECK OUT THIS CONFERENCE: https://syngap.fund/treat   DRUG CO NEWS - Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndr...

CHECK OUT THIS CONFERENCE: https://syngap.fund/treat      PROBABLY GENETIC IS WORKING! - Assessment:  syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/    - Testing:  syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund    - Webinar: https://syngap.fund/PG   - Thursday, June 9th at 9am PT/Noon ET/5pmBST   DON’T MISS OUR NEWSLETTER - June 2022 https:...