SynGAP10 weekly 10 minute updates on SYNGAP1

Keep growing our community, we need each other!

- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone.

- Big thought: Complex Population, about to get more complex, "Post-Intervention"

- Sign up for Ciitizen: https://www.ciitizen.com/syngap1/ 

- Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/ 

- Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/ 

- Simons Searchlight in Spanish, English is still being scheduled: https://syngap.fund/SimonsSearchlight/ 

- Interesting paper on #SYNGAP1 and Sleep, the best part is the suggestion at the end to use this for a clinical endpoint! https://twitter.com/cureSYNGAP1/status/1439825860245090306?s=20 

- Not Alone Coloring Book! https://syngap.fund/notalone 

- Cannonball 11 DAYS . 3 dads driving across the US https://syngap.fund/cball #UFDcure

- Go to the GALA! 29 DAYS! https://syngap.fund/gala 

- Easy to do https://syngap.fund/GNP

- 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 28 of #Syngap10 - September 24th, 2021

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

Rarebase explained and who is going to win the race, we don‘t care, we just need it fast.

• Rarebase (explained) and also, they helped us find another another family.  Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase
• Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure
• Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE 
• Company conversations: Q-State Pipeline
• Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won.
• Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala 
• San Filippo has a 10 min podcast and we love it.  Honestly, it's been a great way to connect and I urge everyone to try it out. 

This was episode 27 of #Syngap10 - September 17th, 2021

#SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10 

The future is coming, let’s build it!

#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it!

A wonderful letter from a parent “on an island” that reminded us of the  https://Syngap.fund/lens with http://joashline.com/ made my week.

Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha 

First principles, we are here to change the future and help each other.

The future is coming: Invitae & Ciitizen

• Read this FAQ https://www.ciitizen.com/announcement/ 
• Sign up for Ciitizen https://ciitizen.com/syngap1 

We make the future by raising funds and building community, that is happening twice over with #UFDcure Cannonball & Care Leib Gala.

• https://syngap.fund/cball -> https://www.syngapresearchfund.org/cannonball 25 Days, 
• https://syngap.fund/gala -> https://www.syngapresearchfund.org/gala 43 days (19 for tix)

Two big announcements next week!

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

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

This was episode 26 of #Syngap10

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

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

 

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