SynGAP10 weekly 10 minute updates on SYNGAP1 (video)

Let’s make sure SYNGAP1 is cured in our lifetime.  It’s up to us. Episode 38 of #Syngap10 - December 4th, 2021  

Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers.

The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021 

Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 

Raise funds for SYNGAP1

- Facebook Fundraisers: http://syngap.fund/FBFun

- Giving Tuesday Fundraiser: https://syngap.fund/gt21

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

- Sign up...

Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional

- Getting diagnosed with Syngap1 as an adult 

- It’s a fact; nonprofits have overhead 

   - SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf 

   - SRF is all about transparency syngap.fund/finance

   - SRF has 600K out in grants in 2021 syngap.fund/grants 

- End of Year Giving

- Shop and donate at Amazon Smile bit.ly/SRF_Smile 

- GivingTuesday Nov 30 syngap.fund/gt21

- End...

Top 5: 10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/ https://syngap.fund/gt21 https://syngap.fund/rt3 Studies: ORCA - Full FRAZIER - email Corey@syngapresearchfund.org SIGN UP ALL ONLINE https://syngap.fund/adults and email Lauren@syngapresearchfund.org Old Guard: Aaron, Olga, Rebecca, Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo! Marta, Vicky, Peter, Kali, Summer Pavel, Nancy, Sydney Tavillas Lauren Perry New wave of leaders: Alexis https://syngap.fund/naya Corey Baysden Jen & Dan Robert Suzanne Jones Caitlin Kasper Ashley Frye GET YOUR CARDS! Minted.com FUNDRAISESYNGAP Episode 36 - November 19th, 2021 ...

Episode 35 of #Syngap10 - November 12th, 2021  

HOLIDAY GIFTS - GET SRF #MERCH

5 days left to order Hoodies, T-shirts, other gear: 

- https://syngap.fund/LHC or https://syngap.fund/BKC - Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP 

FOUR STUDIES are enrolling now/soon:

- Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc 

- Dr. Frazier - Reach out to info@syngapresearchfund.org to partic...

Episode 34 of #Syngap10 - November 5th, 2021  

- 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3

- We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 

-Three more studies are enrolling now/soon:

   -Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc 

- Dr. Frazier - Reach out to info@syngapresearchfund.org to participate.  Here is the web...

Episode 33 of #Syngap10 - October 29th, 2021  

-Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala 

-Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity. https://www.uhnresearch.ca/researcher/danielle-andrade 

- Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants 

- Support SRF - syngap.fund/give 

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

Happenings

Tomorrow is the GALA https://syngap.fund/gala 

In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc 

NOW (Crypto Art Auction) https://syngap.fund/sungap 

ICDs & Medical Care - Corey ICD-10 issue https://syngap.fund/F78A1 - ICD-11 is happening too!  Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors 

Thank yous

- Thank you to Ashley and Forbes for giving SRF som...

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...

- 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

- 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 Gui...

- 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 sti...

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 ca...

#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

-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 

#F78A1 #ICD10 #Syngap...

#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 #Pediat...

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...

- 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/video...

#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 

#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: @cure...

-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

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

#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 pa...

#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/i

#SPLASH4SYNGAP is on MONDAY. 3 days until June 21st! Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap  Use hashtag #SYNGAPlove & #Splash4SYNGAP DSC & BCH - It’s go time!  Let’s raise some funds. Read the blogs Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development

ICD-10

- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove

COMMUNITY

 - I don’t want the questions. It’s hard to go out in public, our kids are so damn cute.

- Connecting on a gene/geno pheno.  https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease

BLOGS

 - Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1

 - SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy...

Birthday Fundraiser was a great success! https://syngap.fund/m46 Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Learn more at SyngapResearchFund.org  

SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!

Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast

We are making IPSCs!  https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments

Join the largest SYNGAP1 study on earth https://syngap.fund/nhs

Learn more at https://syngap.fund/rarex

Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars

 - https://syngap.fund/aten Thurs June 10th @ 10 PST

 - https://sy...

SYNGAP10 - Episode 11 - May 21st, 2021 - We must be hopeful - and it makes sense to be so.

SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC

In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10.  As usual, it was packed.

SYNGAP10 - Episode 8 - BREAKING NEWS This episode is an absolute must.  Don't miss it.

 - Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen.  If you are enrolled in Ciitizen, start doing your seizure tracker today: 🔗 https://Syngap.Fund/ST

 - If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/ 

 - 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21.  This is a big deal.  Background link: https://www.syngapresearchfund.org/post/synga...

#Syngap10 - Episode 7 - 23 April 2021 Syngap.Fund/Sprint We have raised $104k, so far!  Look for the #sprint4syngap tomorrow! Thanks to Henry Anderson of the Pats for a shoutout! The fund will go to an upcoming grant at BCH EEG Biomarker work Analysis of Ciitizen data into a study Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST We had meetings with CB, PMC, ELCC & REN this week. Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs Reach out to us if you want to Volunteer at Synga...

SYNGAP10 - Ep. 6 - 16 April 2021

SYNGAP10, episode 5, 9 April 2021 Biomarker EEG work - very exciting IPSCs - Prime editing, Base editing, tRNA etc.  Based on Ciitizen data! SSB30 Webinar!  Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO.  Sign up now: Ciitizen.com/SYNGAP1 CNF Caregiver survey, due April 23rd.    https://syngap.fund/cnf Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand Sprint! Bakers dozen 13 groups over $1k!  62K+ https://syngap.fund/sprint Reminders: Enzo 8, Brazil, was our Warrior this week.  http://syngap.fund/warriors ...

SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study.

Webinars: Jo, SRFCC1 and so many others are up our beautitful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them?  Is your SynGAPian amoung them?  SynGAP.Fund/Warriors Work: Do you have time to help?  Know a filmaker.  Caren subtitles: we are working on them. Sprint4Syngap: we're uping the goal to $100k, we can do this.

Check out the Eat. Sleep. Cure. Mug, love it! #Sprint4Syngap is going well, thanks to leading families and teams. Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx Sign up for Ciitizen.com/SYNGAP1 Cell lines and biobanks. E4 sensors to researchers! CNF profiles our support group. Getting the next board together. Praxis earnings call Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/ SRF joins the American Brain Coalition.

All in 10 minutes! 

Mike's first episode!  A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families.

- Engaged with a new BioPharma company interested in starting a program on SYNGAP1.

- Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible.

- How to sign up for CIITIZEN.com/SYNGAP1

- How #Sprint4Syngap is going

- A preview of some work we are doing on drug discovery w...