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

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

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

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

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

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

#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