SynGAP10 weekly 10 minute updates on SYNGAP1 (video)
Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising!  #S10e60

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising!  #S10e60

May 14, 2022

PREPRINT
- SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088
- Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 

WEBINARS
- #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th  9am PT/12pm ET/5pm BST
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm BST

FUNDRAISERS
- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
- MICE: Help us Make 2!  https://syngap.fund/2mice
- MIKE: I’m matching all donations in May!
- YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers   

STORYTELLING
Watch these incredible sessions from our friends at DSF.  And practice telling your story.

#PRAXIS NEWS
Here is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721 

#HUNTERSYNDROME
- Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/
- Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics- 

GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 

EVENTS:

- June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 

- June 25 in DFW - Join us for a family meeting and hear from Dr. Perry

- October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

- October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 

- November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree 

- December 1 in TN - Syngap Science Meeting - Stay tuned

 

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.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: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 

Episode 60 of #Syngap10 - May 13, 2022

 

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


We raise funds, make mice & they make preprints!  It’s working!  #S10e59

We raise funds, make mice & they make preprints!  It’s working!  #S10e59

May 9, 2022

Congrats to everyone who did #Sprint4Syngap.  Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872

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

STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack 

TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721 

GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 

MICE: Help us Make 2!  https://syngap.fund/2mice

RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4 

EVENTS:

- June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 

- June 25 in DFW - Join us for a family meeting and hear from Dr. Perry

- October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

- October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 

- November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree 

- December 1 in TN - Syngap Science Meeting - Stay tuned

 

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.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: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 

 

Episode 59 of #Syngap10 - May 9, 2022

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


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

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

May 2, 2022

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, companies and doctors. #S10e57

April 26, 2022

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

Why will companies work on #SYNGAP1? #S10e56

April 18, 2022

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

April 9, 2022

#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

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

April 1, 2022

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

Happy Epilepsy Awareness Day! #S10E53

March 25, 2022

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?

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

March 21, 2022

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…

Putting this work in perspective…

March 14, 2022

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


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