SynGAP10 weekly 10 minute updates on SYNGAP1 (video)
Rarebase explained and who is going to win the race, we don‘t care, we just need it fast.

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

September 17, 2021

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!

The future is coming, let’s build it!

September 10, 2021

#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

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

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!

Hope is the smartest move!

September 3, 2021

-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…

Two conversations with the same conclusion…

August 28, 2021

#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.

Telling our story and why it matters.

August 20, 2021
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.
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

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

August 13, 2021

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!

Connection is everything!

August 2, 2021

#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

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

July 23, 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

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

July 16, 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

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

July 9, 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.
  • 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…

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