SynGAP10 weekly 10 minute updates on SYNGAP1

Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58

Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html

Links mentioned
-SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt
-Praxis: https://praxismedicines.com/
-Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html
-RogCon: https://www.rogcon.com/company/#partners

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ 

2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187

WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson.  Register at https://syngap.fund/IDEA 

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 58 of #Syngap10 - May 2, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  

We need funding, companies and doctors. #S10e57

We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday!

 

THURSDAY

Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 

 

SATURDAY
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 

 

I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ 

 

We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs  

 

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 57 of #Syngap10 - April 25, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology 

Why will companies work on #SYNGAP1? #S10e56

First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200!  Sign up now at https: www.ciitizen.com/SYNGAP1

Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org  ;-)

We do cool things like get ICD-10 codes.  I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes.  We are so lucky to have this code, USE IT.  F78.A1

Third, because they believe they will find more patients and we believe that too.  Here are three ways we are working on this:

First, we are working on reaching out to the communities of color to increase genetic testing for NDDs.  If you know someone who would like to support another SRF Movie, please let us know.

Second, we need to resolve VUS patients.  There are too many VUS patients with SYNGAP1.  That is low hanging fruit for finding more patients.

Third, our work with Probably Genetic is going well.  Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe 

Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU 

This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ 

Dates you need to know:

Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 

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 56 of #Syngap10 - April 18, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  

#Sprint4Syngap is just 3 weeks away! #S10e55

#Sprint4Syngap is just 3 weeks away! #S10e55

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! peter@syngapresearchfund.org 

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

LOTS OF NEWS - 1055 Patients, it’s #SyngapCensus Day! #S10e54

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

Industry news!
- Fintepla for LGS!  Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113
- Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178 

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 $.

Global: Victoria is at Dravet in Spain with Katrien from the Netherlands.  How cool is that?  Denmark is next week.

BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues.  We are so lucky to have this code, USE IT.  I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors.  USE THE CODE… F78.A1

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

Advice time:

1. Build #TeamYourKid
   1. Our kids don’t get simpler or smaller
   2. Babysitters and community members who know them now are their advocates later
2. Double up on Neuros (unless you being seen by rockstars who are close)
   1. Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies.
   2. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasons
      1. Second opinions never hurt
      2. The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies.
      3. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list.

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 
2. Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 
3. 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 54 of #Syngap10 - April 1, 2022

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

Happy Epilepsy Awareness Day! #S10E53

Three events to plan on:

1. Jackie’s webinar on Severe Behaviors, Wednesday April 6th.  https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw 
2. Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 
3. 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 

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

 

We are starting to find lots of adult patients, what now?

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

Putting this work in perspective…

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

Another week in 5th gear, buckle up

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

Rare Disease Day is Monday! And here at SRF we can feel it all happening…

COOL START TO THE DAY

https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA
Grief in convo with Kali about Rare Disease Diagnosis.

NEWS

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

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

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:
https://syngap.fund/data

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
Julie in NC on Scramble
Nancy in NJ on Gala
YOU where you are on Sprint eg. Tavilla

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/ 

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