Watch the COMMBINEDbrain / TJB Webinar!

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

Frogs are cool

https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/ 

#SYNGAPcensus is at 1,251

https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023 

SYNGAP is HOT

https://www.youtube.com/watch?v=X4iDyHc4xUA 

#Sprint4Syngap - 28 days, April 29, 2023

- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund  

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

#MDBRSRF - 70 days - June 10, 2023

syngap.fund/mdbr23

#SyngapConf - 243 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf 

- We have signed with a hotel/venue, please stay tuned for room link

- Large Latin Contingent too, just another this morning.

There is so much work to do, volunteer [email protected] 

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 99 of #Syngap10 - April 1, 2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Milken Fastercures RPMM

- So much strong work and thinking here!

https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM 

- Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi 

- Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20 

Why we need a house?

www.fpwr.org - www.jdrf.org - www.runx1-fpd.org 

Press is key!  Congrats to Peggy

https://www.newsandtribune.com/news/clark_county/floyd-family-seeks-to-lessen-funding-gap-for-rare-genetic-disorder/article_d16460f4-c8f8-11ed-a60c-170e5bfff4d6.html 

Amazing Webinars

- Jillian McKee - April 27th - https://syngap.fund/mckee 

Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN https://app.ciitizen.com/

- https://syngap.fund/sprint

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

#MDBRSRF - 79 days - June 10, 2023

syngap.fund/mdbr23

#SyngapConf - 252 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf 

- We have signed with a hotel/venue, please stay tuned for room link

- Large Latin Contingent too, just another this morning.

There is so much work to do, volunteer [email protected] 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 98 of #Syngap10 - March 23,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Community with families

- Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl 

- Hattie and Tony at the pool with the Fosters

-  Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/  

-  Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/  

-  2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/ 

-  Throw them in occasionally.

Talking to 2 year olds

- LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1

- You are fortunate to know.

- Your future will be different and we have written that story, see McKee and Brimble

-  https://twitter.com/JillianLMcKee/status/1600202742269501442 

-  https://twitter.com/cureSYNGAP1/status/1636177159059574784

-  We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/

-  Choose hope, love you kiddo by joining SRF and working with us for a better future.

Amazing Webinars

- From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development 

- 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 - April 27th - https://syngap.fund/mckee 

Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN https://app.ciitizen.com/

- Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration 

- Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1 

- See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf 

#Sprint4Syngap

- https://syngap.fund/sprint

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

There is so much work to do, volunteer [email protected] 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

- https://www.syngapresearchfund.org/syngap10-podcast

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 96 of #Syngap10 - March 6,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

RD Advocacy with Everylife Foundation was Epic.  

- https://everylifefoundation.org/rare-advocates/rare-disease-week/ 

- Join us next year!  Be in cool pictures like this

- https://twitter.com/rareadvocates/status/1631421473842667520

- https://twitter.com/RareAdvocates/status/1631038634936741890

- Here were our asks:

- https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf 

- https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf 

- https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf 

- https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf 

#Sprint4Syngap

- https://syngap.fund/sprint

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

- 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick.

- Remember, there is an adaptive bike in play!

- New family has an event to go to… COMMUNITY

Amazing Webinars

- From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development 

- 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 - April 27th - https://syngap.fund/mckee 

Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN https://app.ciitizen.com/

Listen to #S10e95

There is so much work to do, volunteer [email protected] [

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 96 of #Syngap10 - March 6,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

It’s RARE DISEASE DAY! Hattie has a new video!

https://www.syngapresearchfund.org/families/movies 

I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation

- https://ncats.nih.gov/news/events/rdd

- https://everylifefoundation.org/rare-advocates/rare-disease-week/ 

We have a $20k match! 

- https://syngap.fund/rdd23 

- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023

Deadline for Grants is 3/1

- https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st 

#Sprint4Syngap

- https://syngap.fund/sprint23 

- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

- 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy.  Seven more ready to go.

- Remember, there is an adaptive bike in play!

- New family has an event to go to… COMMUNITY

Amazing Webinars

- 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 - April 27th - https://syngap.fund/mckee 

Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN https://app.ciitizen.com/

iPSCs & Missense Mutations/Variants

- https://syngap.fund/ipsc  

- https://www.syngapresearchfund.org/ips-cell-models

- 30 lines, 3 missense on the list, 1 more in Europe I know about

- I urge you to raise for cell lines if you are a missense.  $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied.  30% risk on the first line.

There is so much work to do, volunteer

- [email protected] 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here

- https://www.syngapresearchfund.org/syngap10-podcast

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 95 of #Syngap10 - February 28,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

We have a $20k match! 

- https://syngap.fund/rdd23 

- 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

- https://clinicaltrials.gov/ct2/show/NCT05737784?term=seizures&cond=Epilepsy&sfpd_s=02%2F08%2F2023&sfpd_d=14&sel_rss=new14

Syngap Stories is on!

https://www.syngapresearchfund.org/syngap-stories 

Ciitizen is over 200! Update your Ciitizen Records

- 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

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 94 of #Syngap10 - February 23,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

-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

- https://sparkforautism.org/

- #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE

- OUAG - Testing Poem -

-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-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

- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 93 of #Syngap10 - February 12,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

-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

- https://sparkforautism.org/

- #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE

- OUAG - Testing Poem -

-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-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

- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 93 of #Syngap10 - February 12,  2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

1. Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1 
   1. News https://twitter.com/cureSYNGAP1/status/1621293977579442177

Ciitizen is over 200! Update your Ciitizen Records

- 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

- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 92 of #Syngap10 - February 8,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Press is good! 

- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362

Jo Ashline in Invitae:

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-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:

 - VUS Resolution

 - SYNGAP1 Translational Science

- 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

- 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