SynGAP10 weekly 10 minute updates on SYNGAP1

Hope is the smartest move!

-That incredible webinar https://Syngap.fund/ana was a source of hope!

-The newsletter came out yesterday; it’s really good: https://syngap.fund/sept 

-Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1 

-Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR 

-Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10

-What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 

This was episode 25 of #Syngap10 - September 3rd, 2021

#F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

Two conversations with the same conclusion...

#SYNGAP10 - Ep. 24 - August 27th, 2021 - Two conversations with the same conclusion...

Next Webinar: https://Syngap.fund/ana  Sept 2 at 10 am. PST

Two conversations with the same conclusion, sign up for Ciitizen https://ciitizen.com/syngap1 

Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR 

Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10

What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 

 

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

Telling our story and why it matters.

Episode 23 of #Syngap10 - August 10th, 2021

Eduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon.  Remember to register for Ana in September https://Syngap.Fund/Ana

SYNGAP1 is on the Compassionate Access List (CAL) for the SSA.  This just happened and it's due to the work of one of our families, thank you!  https://Syngap.Fund/SSA 

Great scientist conversations this week.  

• New researcher looking into SYNGAP1, connecting with local families
• Rockstars reviewing a multi-gene grant
• One senior scientist called to say he's got Fish and we should let people know.

Stories I will tell to help bring home how not simple this life is.

• Jadyne https://www.facebook.com/whatweneedyesterday
• Kyle https://www.youtube.com/channel/UCCbBNmkHLwba--nQ8LX0WCQ
• Carter https://www.youtube.com/watch?v=f6DsFUz-6HM
• Emmitt https://www.youtube.com/watch?v=tOampbK0uy0
• Amelia https://www.youtube.com/watch?v=gvwJqF_kuBI

What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1

Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR

Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10

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

Webinars, Mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR

Episode 22 of #Syngap10 - August 13th, 2021

- Webinars

     -https://Syngap.fund/eduardo  August 19 at 10 am PST

     -https://Syngap.fund/ana  Sept 2 at 10 am PST

- Mugs mugs mugs

     -https://twitter.com/AAledo/status/1426207246149636099 

- Blog: Genetics article is a must read for new families 

     - https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1 

- Genetic Counselors

     - Tell me about your experience

     - What do they need to know?

     - Hug them

- Ciitizen

     - Count 110 + 12, let's keep going, 28 spots left!

     - Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/

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

- Cure

     - Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease 

     - See episode 19. Yes, we need to reach for this

     - We may not know what is coming, but we need to work for it

 

- One Upon a Gene

     - 94 https://effieparks.com/podcast/episode-094-mike-and-nasha 

     - 41 https://effieparks.com/podcast/episode-41-syngap-research-fund

- Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k!

Connection is everything!

#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything!

-Thank you for all the connections this week!

   -San Diego with the Harding Family 

       -https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359 

   -New Jersey with Nancy Lieb Kessler 

       -https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/

   -Ashley in Boston

       -https://twitter.com/SYNGAP1mom/status/1420457356836495360 

-Juan and Vicky did a wonderful video!

     -https://www.youtube.com/watch?v=T_W_3IuJCrI 

     -https://fb.watch/78guUyW3pp/ 

-Support our current effort at https://syngap.fund/CTR 

-Subscribe to this podcast at https://syngap.fund/10 

Great things afoot! Join us. - Episode 20 of #Syngap10 - July 23rd, 2021

#SYNGAP10 - Episode 20 - July 23, 2021 - Great things afoot!  Join us.

• Thank you to you know who you are, & welcome to three new families this week!
• https://syngap.fund/CTR is happening, worked on data this week
• https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3!
• Next grant on drug discovery is already in the works
• A few announcements

• • Wed July 28 - San Diego, see you next week
  • Sunday August 1 - Gathering in Jersey
  • Tuesday August 24 - UC Davis meet the researchers
  • Interested in getting a service dog? https://www.meridusk9.com 

• Make sure you track us on social: @cureSYNGAP1 on all platforms
• Look for a cool podcast on August 5th with Mike & Nasha, be sure to follow OUAG: https://effieparks.com/podcast

Let’s @cureSYNGAP1 - Episode 19 of #Syngap10 - July 16th, 2021

-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms

-Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1

-Still fundraising for https://syngap.fund/ctr

-All social media is now on @cureSYNGAP1

   -https://Facebook.com/cureSYNGAP1
   -https://Twitter.com/cureSYNGAP1
   -https://Linkedin.com/company/curesyngap1
   -https://Instagram.com/curesyngap1
   -https://Tiktok.com/@curesyngap1
   -https://YouTube.com/c/@cureSYNGAP1
   -Yep, we said it, and we mean it.

-Subscribe to this podcast at https://syngap.fund/10

”Seizures, Communication, Behavior, Sleep, Other” Is that right? - Episode 18 of #Syngap10 - July 9th, 2021

#SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right?

• https://Syngap.Fund/CTR - $26k and growing.
• Birthday Fundraisers, $25 per $250, we will find and thank you!
• https://Syngap.Fund/blog - Make sure to read the latest on variants
• Events: Webinar & Meetups
  • https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific.
  • San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group.
  • Beach Haven, NJ Meetup - August 1st  11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts.

• 121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina.  Great work.

• We are working on a poster for a meeting, stay tuned, we are learning it’s not easy to explain this life… a couple of stories

• • Order of Symptoms
  • 8 weeks from Seizure to Dx in Ireland, wow, 3.5.  Great work Temple St, Dublin.
  • Meds overload.  Always check levels and loop with doctors…

Let’s get to work for these 808 kids! - Episode 17 of #Syngap10 - July 2nd, 2021

#SYNGAP10 - Episode 17 - 2 July 2021 

- Thanks for listening, now please share!

- Newsletter: https://Syngap.Fund/July

- Census: https://Syngap.Fund/Census Honestly, it’s low.  Remember Covid.

- Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients

- Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf

- Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years.

- July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.” https://www.nature.com/articles/s41436-021-01242-6

- Time for some fundraising: https://Syngap.Fund/CTR Deal done, Board reviewed. Post-docs staffed.  Let’s make it happen… everyone can help. 

- Remember, SRF is the best deal ever: https://syngap.fund/smartdonors

- Subscribe at https://syngap.fund/10

Put your mask on first. - Episode 16 of #Syngap10 - June 25, 2021

#SYNGAP10 - Episode 16 - 25 June 2021

• REMINDER - Put your own mask on first.
• THANKS - #syngapLOVE photos were great, check out our header image
• THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718
• GIVE - https://Syngap.Fund/CTR - We need to raise some money folks!
• WORK - Fundraisers are getting real, need to organize some events, email Peter@syngapresearchfund.org
• PROGRESS - Ciitizens got gift cards!  Yeah, sign up now.  Ciitizen.com/SYNGAP1
• STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. https://syngap.fund/icd10