SynGAP10 weekly 10 minute updates on SYNGAP1 (video)
Coming in hot!  BCH Grant putting Ciitizen to work & the Gala is next week!

Coming in hot!  BCH Grant putting Ciitizen to work & the Gala is next week!

October 15, 2021

Episode 31 of #Syngap10 - October 15th, 2021

- We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital
- Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 

- Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure 

- Consider donating to our fundraiser for RareBase syngap.fund/RB

- Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser, SRF Director Nancy Kessler and co-founder Ashley Evans will be speaking. syngap.fund/gala

- December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 

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

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

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


Inspiring your community and raising awareness for SYNGAP1

Inspiring your community and raising awareness for SYNGAP1

October 8, 2021

- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb

- Family fundraiser: syngap.fund/jansen

- Consider donating to our fundraiser for RareBase. syngap.fund/rb

- SYNGAP1 Patient Voice Publication. syngap.fund/pvp

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


F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! Guest host, Ashley Frye

F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! Guest host, Ashley Frye

October 1, 2021

- Go see the SRF TikTok account: syngap.fund/tiktok

- Find us everywhere at our handle @curesyngap1.

- It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1 

- Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure.

- Consider donating to our fundraiser for RareBase syngap.fund/RB

- #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census.

- Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors.  

- Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser and co-founder Ashley Evans will be speaking. syngap.fund/gala

- October Newsletter: read it here: syngapresearchfund.org/news.  

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

This was Episode 29 of #Syngap10 - October 1st, 2021

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


Keep growing our community, we need each other!

Keep growing our community, we need each other!

September 24, 2021

- 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 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!


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