90 episodes

SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.

SynGAP10 weekly 10 minute updates on SYNGAP1 (video‪)‬ Syngap Research Fund, 501(c)(3)

    • Business
    • 5.0 • 62 Ratings

SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.

    • video
    Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

    Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

    Seven Ways to help:
    - Post a video with a seizure
    - Take a 10 minute survey
    - Tell us how you feel about Simons and Rare-X
    - Signup for or Update Ciitizen
    - Signup for or share a Wednesday Warrior
    - Buy JR’s book and give it to someone
    - Plan your fundraiser this year
     
    Videos of kids with seizures.  #SYNGAPseizure
    #biomarker
     
    Help Research with this brief survey.  Tell a friend and share these links - 150 & counting, $50 each. 
    - Short link: https://syngap.fund/UCSF_survey
    - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund
     
    Simons and Rare-X - What do you think?
    - https://syngap1.rare-x.org/
    - https://www.simonssearchlight.org/research/what-we-study/syngap1/ 
     
    Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/ 
    - Sign-UP https://ciitizen.com/syngap1 
     
    Another special Wednesday Warrior, please read - 17 year old
    - https://www.syngapresearchfund.org/syngap-warrior/eli-2 
    - https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story
     
    JR WEBINAR - MORE OF EVERYTHING - BOOK
    - Recording Available - https://syngap.fund/jr- Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL 
     
    Congrats to the Stromgaard Lab on a big award.
    - https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw
     
    Thank you to Ingo for updating your graphic on genes
    - https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw
     
    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 
    - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 
    - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
    Episode 90 of #Syngap10 - January 21,  2023 
    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

    • 11 min
    • video
    JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

    JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

    JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89
     
    JR WEBINAR - MORE OF EVERYTHING - BOOK
     - Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA 
     
    ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA.
     - Login/Signup for Rare-X https://syngap1.rare-x.org/
     - Take the ORCA
     
    Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data.  And how distinct SYNGAP1 is…
    Thread https://twitter.com/JMGraglia/status/1612978647107002368
    Distinct https://twitter.com/JMGraglia/status/1612978675053658113
    SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442 
     
    Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ 
     - Sign-UP https://ciitizen.com/syngap1 
     
    All about Syndrome Management, let’s get beyond seizures.
    https://twitter.com/CNSdrughunter/status/1612863006148366356 
     
    PRAX-222 is number 3.  So exciting.  To see ASOs go into the Brain.
    Stoke with #SCN1A
    Ultragenyx with Angelman Syndrome
    Praxis with #SCN2A via #PRAX222
    Who will 4 be?  Will it be #CDKL5?  #STXBP1? SYNGAP1?
     
    Very special Wednesday Warrior, please read - 19 year olds
    https://twitter.com/cureSYNGAP1/status/1613263197930422272
     
    Ellen’s Dx Journey - 40 year old
    https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son 
     
    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
    Episode 89 of #Syngap10 - January 14,  2023 
    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

    • 10 min
    • video
    New Grant, Rare Affair, SYNGAP1 research and events #S10e88

    New Grant, Rare Affair, SYNGAP1 research and events #S10e88

    NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK
    LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568 
    Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688 
    Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl 
    Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences 
     
    #RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
    https://www.linkedin.com/in/allyson-berent-36621523/ 
    Saving Ryan - 
     
    #BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED
    https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL  
     
    GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU
    https://www.rarescience.org/rare-science-partner/syngap1-research-fund/ 
     
    #SYNGAP1 in BEYOND THE ION CHANNEL
    https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/ 
     
    #HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR
    https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w 
     
    #NOSPHARMA HAS #SYNGAP ON THE PIPELINE 
    https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/ 
    See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ  
     
    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
     
    Episode 88 of #Syngap10 - January 10,  2023 
    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

    • 12 min
    • video
    SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87

    SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87

    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/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZdHyTUHUrnFXU5D11JNJBew3Nkl
    LinkedIn  https://www.linkedin.com/feed/update/urn:li:activity:7016425793358626816
     
    Inside Precision Medicine Profile
    Twitter https://twitter.com/cureSYNGAP1/status/1610793389544570882
    Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02xVVu69w4bAMA8kPe7kcAVg6HkvVrMcsEmBmMM56wxWCu7VbUHpAunr5YgNMPVwgrl 
    Linkedin https://www.linkedin.com/posts/curesyngap1_rare-parents-tackling-rare-diseases-activity-7016560489325375488-prUZ
     
    DNAtoday Podcast
    LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7014595296269586432
    Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800
    Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02V5WJnsGZaVj1MR9fotCY2NGEAuWZoNPKrmFf5YaWuQjhSRL3WM6BiHtf63KGFfAcl
    Source https://dnapodcast.com/episodes/2022/12/30/217-syngap1-with-mike-graglia-and-elli-brimble
     
    DEANNA IS AMAZING
     
    Wednesday Warrior https://www.syngapresearchfund.org/families/support/syngap-warriors
    Sign up to be a warrior https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story 
    Photos https://twitter.com/JMGraglia/status/1610790226607366144 
     
    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
    Episode 87 of #Syngap10 - January 4,  2023 
    #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

    • 12 min
    • video
    #SYNGAPconf22 was a hit, join us in 2023… #S10e86

    #SYNGAPconf22 was a hit, join us in 2023… #S10e86

    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://www.facebook.com/cureSYNGAP1/posts/pfbid0gTTnF77VdbTirweTyKqKxHzDkNz66jUxxnvwMzjUxzwzFU1Q1U4HYrDywFMoBeAkl
    https://twitter.com/cureSYNGAP1/status/1608216895240671232?s=20&t=INvuB36y5oJM-bL_RKtscg
    https://www.linkedin.com/feed/update/urn:li:activity:7013986280099250177
     
    CIITIZEN DATA BY CHOP
    https://twitter.com/JillianLMcKee/status/1600202742269501442  
     
    SIGN UP FOR CIITIZEN
    ciitizen.com/syngap1
     
    SCIENCE DAY AGENDAhttps://twitter.com/sandysmith317/status/1598322472037801984 
     
    FAMILY DAY AGENDA
    8:30 AM SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky 10:45 AM REGISTRIES - Invitae, Simons, Rare-X w/Q&A
    12:15 PM GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia
    1:15 PM PRAXIS
    1:40 PM TAKING ON BEHAVIORS - Jackie Kancir, SYNGAP1 Mom & Advocate
    2:30 PM MORE OF EVERYTHING BOOK LAUNCH - Janie Reade, SYNGAP1 Mom & Author
    3:20 PM SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky
    3:45 PM SRF YEAR IN REVIEW - Rebecca, Peter, Pavel
    4:30 PM LOOKING TO THE FUTURE - Mike
    6:30 PM COMMUNITY DINNER
     
    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
    Episode 86 of #Syngap10 - December 29,  2022 
    #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

    • 15 min
    • video
    #AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85

    #AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85

    #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 & Geneticshttps://twitter.com/LalDennis/status/1600617199110070286
    Mike’s Talk at AEShttps://twitter.com/LouisTDang/status/1598753675714887684
    https://twitter.com/IDreamofGenes/status/1598753872172191745
    https://twitter.com/john_oldenhof/status/1598756993073717249
    CAMP4 Poster by Ali Al Abdullatif, MsChttps://twitter.com/camp4tx/status/1601222388317917186
    This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
    Episode 85 of #Syngap10 - December 29,  2022 
    #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

    • 11 min

Customer Reviews

5.0 out of 5
62 Ratings

62 Ratings

FOXG1 Mom ,

Fascinating

So fun to follow Mike’s journey with SYNGAP1.

googlegirl ,

Don’t miss this podcast!

This is such a valuable service to the rare disease community!

jls ocnds ,

A must add to your playlist!

Mike is a trailblazer! His energy and commitment are unmatched! This is an amazing way for everyone to keep up with the incredible work being done at SRF! I believe they are changing the landscape of rare!

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