SynGAP10 weekly 10 minute updates on SYNGAP1

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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

Tuesday Jan 31, 2023

Why we need to keep talking about SYNGAP1 #S10e91

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

- Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund

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 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

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

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

- 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

Sunday Jan 15, 2023

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

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

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

Tuesday Jan 10, 2023

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

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

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

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

SRF BY THE NUMBERS IN 2022

GREAT PRESS

Diagnosis of a 40 year old #SYNGAPian

Inside Precision Medicine Profile

DNAtoday Podcast

LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7014595296269586432

Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800

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

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

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 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

Episode 86 of #Syngap10 - December 29, 2022

Thursday Dec 29, 2022

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

Thursday Dec 29, 2022

#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

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

Episode 85 of #Syngap10 - December 29, 2022

Tuesday Nov 29, 2022

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84

Tuesday Nov 29, 2022

#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-details/praxis-precision-medicines-advance-prax-562-phase-2-study

Go Team Canada and Overcome for Bowie Small Molecule Grant!
https://www.eurekalert.org/news-releases/960181
https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g

John Oldenhof, an #STXBP1 dad talks about two key points.
https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/

#S10e83 on Stoke and TimeOnDrug
https://www.youtube.com/watch?v=7uK2dCs53Ew

#GivingTuesday - Support SRF!

https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022

Genomenon:
https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html

Combined Brain:
https://combinedbrain.org/

Thank you Heather and Spark!
https://sparkforautism.org/discover_article/autism-answers-research/
https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g

Episode 84 of #Syngap10 - November 29, 2022

Tuesday Nov 22, 2022

#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83

Tuesday Nov 22, 2022

#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

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

Soiree: Incredible, Boston: Fabulous; & two to-dos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

Monday Nov 14, 2022

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-true-refuge/201702/real-not-true

BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/

You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th.

Send Summer a photo: Summer@SyngapResearchFund.org

Today! 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: https://www.ciitizen.com/syngap1/

SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”

NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

8-8:30 WELCOME AND BREAKFAST - Lauren
8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler
11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A
12:00-12:30 LUNCH
12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia
1:30-1:55 PRAXIS - Title TBD
1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir
2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR
3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga
3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich
4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia
6:30-8:30 Community Dinner @ Deacon's New South

JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

JOIN US - 12/2 DINNER:
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://syngap.fund/10a

Episode 80 of Syngap10 - November 10, 2022