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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes

Thursday Feb 23, 2023
Thursday Feb 23, 2023
We have a $20k match!
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - Date TDB - https://syngap.fund/mckee
Killer Blogs on Free Genetic Testing
- Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up
- How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy
- Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1
- List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1
PRAX-222 Day!
- https://twitter.com/cureSYNGAP1/status/1628189201232699393
Syngap Stories is on!
https://www.syngapresearchfund.org/syngap-stories
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 94 of #Syngap10 - February 23, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Monday Feb 13, 2023
Monday Feb 13, 2023
-Beacon - EEGs are critical for us. https://beacon.bio/
-Diagnosis: Heather
- Survey: https://syngap.fund/maybe
- Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1
- #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE
- OUAG - Testing Poem -
Roses are red, Violets are blue
You gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261
-Rare Disease Swarm - So many genes, moving so fast.
- Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
- Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
- Hotels are cool, start planning for a great weekend in December in Florida now…
- Short Link: https://syngap.fund/2023conf
- Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform
-Grief: https://twitter.com/curesyngap1/status/1623934799009419265
- ENDD Webinar hosted by STXBP1
- Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616
- Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE
- More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 93 of #Syngap10 - February 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Wednesday Feb 08, 2023
10 Reasons SYNGAP-land is hopeful & exciting today #S10e92
Wednesday Feb 08, 2023
Wednesday Feb 08, 2023
- Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1
- Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team.
- Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw
- Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
- Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1
- Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw
- Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7
- We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories
- Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
- Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1
- Three ways to raise money!
- We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
- Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1
- We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials
- Many other signs of progress
- RSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg
- Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/
- Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 92 of #Syngap10 - February 8, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Tuesday Jan 31, 2023
Why we need to keep talking about SYNGAP1 #S10e91
Tuesday Jan 31, 2023
Tuesday Jan 31, 2023
Press is good!
- Short link: https://syngap.fund/nw
- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362
Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf
Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science Day!
https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable
Grant applications due March 1, 2023
https://www.syngapresearchfund.org/professionals/grants/how-to-apply
Priority Areas:
- Biomarkers & Endpoints
- VUS Resolution
- Characterizing SYNGAP1 patients in the literature
- SYNGAP1 Translational Science
Help Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each.
- Short link: https://syngap.fund/UCSF_survey
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 91 of #Syngap10 - January 31, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Saturday Jan 21, 2023
Saturday Jan 21, 2023
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
Simons and Rare-X - What do you think?
- 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:
Episode 90 of #Syngap10 - January 21, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Sunday Jan 15, 2023
Sunday Jan 15, 2023
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
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

Tuesday Jan 10, 2023
New Grant, Rare Affair, SYNGAP1 research and events #S10e88
Tuesday Jan 10, 2023
Tuesday Jan 10, 2023
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
#RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
https://www.linkedin.com/in/allyson-berent-36621523/
Saving Ryan -
#BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED
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
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

Wednesday Jan 04, 2023
SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87
Wednesday Jan 04, 2023
Wednesday Jan 04, 2023
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
- 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

Thursday Dec 29, 2022
#SYNGAPconf22 was a hit, join us in 2023… #S10e86
Thursday Dec 29, 2022
Thursday Dec 29, 2022
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://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
SCIENCE DAY AGENDA
https://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

Thursday Dec 29, 2022
#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85
Thursday Dec 29, 2022
Thursday Dec 29, 2022
#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85
Dr. Grinspan on AES
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
Mike’s Talk at AES
https://twitter.com/LouisTDang/status/1598753675714887684
https://twitter.com/IDreamofGenes/status/1598753872172191745
https://twitter.com/john_oldenhof/status/1598756993073717249
CAMP4 Poster by Ali Al Abdullatif, MsC
https://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