Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad.

Sprint4Syngap

- Learn more at http://Syngap.fund/sprint

- What is Sprint4Syngap? SRF’s annual fun run fundraiser.

- Create a team http://Syngap.fund/sprint2022

- Banners http://Syngap.fund/banner

Fundraising For a Cause

- Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile

- Dr. Zach Grinspan, Weill Cornell Medicine -  $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005

- Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/

Questions? Reach out to Peter! [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 55 of #Syngap10 - April 9, 2022

#SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  #Sprint4Syngap

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022 

Industry news!

We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn

Thank you Julie for your help making mice, we are really having fun accelerating science.  Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF.  All costs $.

Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe

1. Build #TeamYourKid
   1. Our kids don’t get simpler or smaller

Reminder in last episode (google #S10e53) for all the events this year, but coming up fast:

1. Jackie’s webinar on Severe Behaviors, Wednesday April 6th.  https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw 

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 54 of #Syngap10 - April 1, 2022

#SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Three events to plan on:

1. Jackie’s webinar on Severe Behaviors, Wednesday April 6th.  https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw 

Here are the dates to think about for the rest of the year…

April 7-8

5th Dianalund International Conference on Epilepsy - Implementing Epilepsy Genetics in Clinical Practice

Denmark

April 30

Sprint for Syngap

Worldwide

May 13-15

EpiCon Convention

Nashville, TN

June 5 – 6

Epilepsy Foundation Pipeline Conference

Santa Clara, CA

June 11

Million Dollar Bike Ride

Philadelphia, PA

June 21

Splash for Syngap

Worldwide

June 23-25

2022 DSF Family & Professional Conference

Fort Worth, TX

June 25

Dr. Perry presenting exclusively to Syngap1 families

Fort Worth, TX

July 11-13

World Orphan Drug Congress

Boston, MA

September 26

Global Genes Patient Advocacy Summit

San Diego, CA

October 8

Scramble for Syngap

Travelers Rest, SC

October 8

2nd Annual Caren Leib Gala

New Jersey

Oct 31-Nov 1

Epilepsy Awareness Day Expo

Anaheim, CA

November 2

Epilepsy Awareness Day Disneyland

Anaheim, CA

November 12

Sparks of Hope

Atlanta, GA

November 29

Giving Tuesday

Worldwide

December 1

Scientific Meeting hosted by SRF

Nashville, TN

December 2-6

AES & the 4th Annual Synapse Roundtable

Nashville, TN

Thank you to #UFDTech for your fundraiser today, check it out: https://www.youtube.com/watch?v=Whkborgb-90 

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 53 of #Syngap10 - March 25, 2022

#SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk 

SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments 

Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 

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 52 of #Syngap10 - March 21, 2022

#s10e52 #Ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Mike takes a break from all the updates to put things in perspective. This work is critical.

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 51 of #Syngap10 - March 14, 2022

#s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Mike takes a break from all the updates to put things in perspective. This work is critical.

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 51 of #Syngap10 - March 14, 2022

#s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Post RDD - 

- Last day of Feb, b/c rarest day

- What did we do?

   - Raised $25k!

   - Newsletter went out!  Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824

   - Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644

   - Jansen and Kimberly were shared, and that is a win for all of us.

       - https://variantyx.com/2022/02/25/jansens-story/

       - https://www.raredisease.org.uk/rduk-news/our-syngap1-story/ 

    - Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic 

   - Webinar madness!

      - Two down

      - https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice 

      - https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org 

    - Two to go

      - Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal 

      - Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian

    - SEVEN (7) New families this week

      - Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743

      - One not on FB, but reached out after finding us… via this podcast!  Yeah.

That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too!

- Follow us everywhere with @cureSYNGAP1 

- We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go.  https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg 

- And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant

- Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle  

Thank you to SAB and CAB

    - We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board

    - They are working hard looking at some of the seven grant proposal we received!  It’s going to be a great investment in the future of our loved ones…

Sprint4Syngap!

- 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

- Sign up now: https://syngap.fund/sprint2022 

- Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ 

What else?

- ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project.

    - Great meeting with Overcome and partnering on Canadian grants.

    - One family, older, needed a neuro and we got them hooked up in a day.  Love it.

    - One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22 

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 50 of #Syngap10 - March 5, 2022

#s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

COOL START TO THE DAY

https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA

We dropped the Zempleni Presser!  How cool is this?  Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729

More is coming soon.  We have a few press releases in the hopper!  One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much.  Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0

PRESENTATIONS

Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations!

Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day.  Thank you to her and congratulations.  It is powerful to talk about our disease.

The Data Sharing Panel was exceptional, if you missed it, watch the recording here:

Get your EEG Tracings!  In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies.

AMAZING ASKS

Profs at Oxford and McGill have reached out with exciting opportunities.  Rarebase is getting noisy.  I’m told to expect a proposal from WCM and we have one from Finland.  We need more funding… start talking to families now.  We are asking Leon and Overcome to co-fund with us too.

FUNDRAISING

Suzanne in GA on Sparks of Hope

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

Sign up now: https://syngap.fund/sprint2022

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 49 of #Syngap10 - February 25, 2022

#datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

COOL START TO THE DAY

https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA

We dropped the Zempleni Presser!  How cool is this?  Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729

More is coming soon.  We have a few press releases in the hopper!  One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much.  Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0 

PRESENTATIONS

Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations!

Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day.  Thank you to her and congratulations.  It is powerful to talk about our disease.

The Data Sharing Panel was exceptional, if you missed it, watch the recording here:

Get your EEG Tracings!  In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies.

AMAZING ASKS

Profs at Oxford and McGill have reached out with exciting opportunities.  Rarebase is getting noisy.  I’m told to expect a proposal from WCM and we have one from Finland.  We need more funding… start talking to families now.  We are asking Leon and Overcome to co-fund with us too.

FUNDRAISING

Suzanne in GA on Sparks of Hope

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

Sign up now: https://syngap.fund/sprint2022

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 49 of #Syngap10 - February 25, 2022

#datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Happy National Caregiver Day!

The Data Sharing Panel next week will be epic, don’t miss:

Use you ICD Codes!  F78.A1 if you want background:

Get your EEG Tracings!  In EDF format.

Make sure you connect with us to be connected with the community, either on our reg page or on Facebook:

https://syngap.fund/fb goes to https://www.facebook.com/groups/syngap

Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1

Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

Sign up now: https://syngap.fund/sprint2022

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 48 of #Syngap10 - February 18, 2022

#datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology