SynGAP10 weekly 10 minute updates on SYNGAP1

Happy National Caregiver Day!

The Data Sharing Panel next week will be epic, don’t miss:
https://syngap.fund/data
Tweet: https://twitter.com/curesyngap1/status/1493282864263090181

Use you ICD Codes!  F78.A1 if you want background:
https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1
SRF Case Study here: https://ICDCodeRoadmap.org 

Get your EEG Tracings!  In EDF format.

Make sure you connect with us to be connected with the community, either on our reg page or on Facebook:

https://syngap.fund/fb goes to https://www.facebook.com/groups/syngap
https://www.syngapresearchfund.org/families/connect-with-us 

Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1

Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

Sign up now: https://syngap.fund/sprint2022
Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast 

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 

Episode 48 of #Syngap10 - February 18, 2022

#datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

It’s all coming together - data, trials, research. Time is now to join in!

The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet 

Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/

Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!

- Sign up now: https://syngap.fund/sprint2022 

- Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ 

Reminders:

- Great webinar coming up: the use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 

- This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast 

- Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 

 

Episode 47 of #Syngap10 - February 14, 2022

#trialdesign #braindonation #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.

You can’t do this alone, don’t try.  But do Plan.  Lots of planning from SNTs to Brain Donation to Service Dogs.

HEADLINE: YOU CAN”T DO THIS ALONE, DON’T TRY

-Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows.  We cannot do this alone.

PLANNING

One parent just asked how to think about planning for the future, here is what I said.

1. Part of the answer is a simple SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think.
2. The desire not to burden your other kids is natural, but not always helpful. I'd leave that up to them, in most of the families that I have had the privilege of getting to know... at least one sibling WANTS to step up, and plans their life accordingly. Look at Nancy, just watch https://syngap.fund/caren
3. Regardless of money, all of our kids will need state services throughout their life if we don't get a therapy into their brains (this is what SRF works on). And even then they will need support, but less. At this point, I would ask yourself two things:

         - 3a. Are you going to live in this place for good? If so, get all over services in your state. The rules and realities vary considerably by state.

         - 3b. If you are flexible, is there another place you could live and what are services like there? I've seen a few families take a deep breath, ask these questions and move.

4. Our kids don't get less complicated, I think you have signed up for Ciitizen, but whoever cares for your loved one will be so grateful that you have put all his medical records in one place. https://ciitizen.com/Syngap1
5. Get to know this community, we have a STRONG SRF Crew having other families close is huge. Not to mention they know the rules in your state (see #3a).

WEBINARS

-An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN 

-The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 

SERVICE DOGS

SRF works with Meridus K9, if you are interested, please reach out to Cecilia! https://www.meridusk9.com/ 

FUNDRAISING IS ALWAYS IMPORTANT

- https://syngap.fund/hopeforhadley $12.5k

- https://Syngap.fund/joinforjackson $800

- https://Syngap.fund/raylan 

 

2nd Annual #Sprint4Syngap is coming April 30, 2022.

- Sign up now: https://syngap.fund/sprint2022 

- Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ 

 

THIS IS A PODCAST - SUBSCRIBE!

- Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

Episode 46 of #Syngap10 - February 7, 2022

#servicedogs #braindonation #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.

Old School Syngap10 - Lots of great content in 10 minutes.  Fundraising. Blogs. Webinars. Patient stories. Ciitizen.

IT ALL TAKES MONEY

- Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley

- 2nd Annual Sprint for Syngap is coming April 30, 2022. 

WEBINARS

- La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion

- An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN

- The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni

BLOGS

- Diapers: https://www.syngapresearchfund.org/post/diapers-pull-ups-for-older-kids-a-moms-experience

- Missense: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344

   - https://www.genome.gov/sites/default/files/tg/en/illustration/missense_mutation.jpg

MUTATION STORIES

- c.3583-6G>A Europe and East Coast, connected!

- c.333del and c.490 C>T Facebook Groups

- Data https://docs.google.com/spreadsheets/d/13dAPdXJnF-ST4lJnKrgxEJ_03e7shyXg7jwiqeXSR7c/edit?usp=sharing 

CIITIZEN 

- Privacy https://ciitizen.com/privacy

- Sign up https://ciitizen.com/SYNGAP1 

- Nobody does it better.

EXTRA CREDIT

- Gene Fixers was VERY GOOD.  Here is the replay.  This is worth a listen. www.clubhouse.com/room/m26dGYr4?utm_medium=ch_room_xerc&utm_campaign=RgMbPQTckJlMoxenxVxCiQ-38225

REMEMBER

- Raise funds at https://syngap.fund/give

- Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

Episode 45 of #Syngap10 - January 28, 2022  

#braindonation #specialneedsdiapers #missense #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)

Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext

Here is the quote Mike read: 

“It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients.

The future of child neurology is bright—indeed, far more promising than at the turn of the 21st century. Many devastating diseases now have real hope of targeted therapies, which can cure not just one but all manifestations of the disease and offer the child and family the promise of a normal life.”

SRF article on IPSCs: https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments

SRF article on reading your genetic report:
https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease 

SRF article on VUS:
https://www.syngapresearchfund.org/post/does-your-genetic-report-contain-a-variant-of-unknown-significance-vus-in-syngap1 

REMEMBER
Raise funds at https://syngap.fund/give 

Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

Episode 44 of #Syngap10 - January 21, 2022  

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

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 #S10e43

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1

BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ 

FIVE KEY LINKS
- Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference
- AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf
- STOKE Patent https://patents.google.com/patent/WO2017106377A1/en
- #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner
- Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1

SPREAD THE WORD
Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20

Linkedin.com/feed/update/urn:li:activity:6886314132866506753

Facebook.com/cureSYNGAP1/posts/946801809535615

WHO IS WHO AT STOKE
https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986

https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014

https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006

https://www.linkedin.com/in/barryticho/ MD PhD Chicago

https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago

 

COMPANIES
Stoke https://www.stoketherapeutics.com/ $ACAD
Acadia https://www.acadia-pharm.com/ $STOK

 

OTHER GREAT LINKS
DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf 

It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen 

Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/ 

From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html
Kaye said he was recruited by Stoke co-founder Adrian Krainer, with whom he previously worked at Genzyme before joining Sarepta in 2010. Krainer is perhaps best known for being an inventor of another “antisense” drug targeting a genetic disease, Biogen’s spinal muscular atrophy treatment Spinraza.

“He was one of the real originators of RNA therapy,” Kaye said. “I thought (Stoke) was at a point where it needed to be shepherded from preclinical development into the clinic. It was a really exciting opportunity.”

Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics 

IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2 

REMEMBER
Raise funds at https://syngap.fund/give 

Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

Episode 43 of #Syngap10 - January 14, 2022  

#StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx
#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

How to tell your family about SYNGAP1

How to tell your family about SYNGAP1

As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family?  How?

When?  As soon as you can!

How, well that’s what we talk about today:

1. This is a big deal, let’s not minimize it.
2. I need your help
   1. Learn with me
   2. Fight insurance with me
   3. Help me rearrange my life
   4. Help with my SYNGAPian or their siblings
   5. Jump into my life, don’t give me space
3. Raise funds with me to help bring therapies and cure closer to reality

- Raise funds at https://syngap.fund/give 

- Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

Episode 42 of #Syngap10 - January 7, 2022

#family #thetalk #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

2021 by the numbers, 985 patients counted, exciting work ahead!

2021 by the numbers, 985 patients counted, exciting work ahead!

- Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers

- The #SyngapCensus is at 985! https://syngap.fund/census

- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US! 

- Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

Episode 41 of #Syngap10 - December 31, 2021  

#phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Let’s catch the Genetic Therapy Tsunami for SYNGAP1!

Episode 40 of #Syngap10 - December 17, 2021  

- Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 

- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! 

- Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL

- ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure  

- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha

- Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/

- Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096

- phenylbutyrate 

    -https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/

    -https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf

    -https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1

    -Start at 40:40 https://vimeo.com/610301620

- Raise some money! https://srf.salsalabs.org/srfdidyouknow

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

- Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a 

#phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

This is Real Life! Science is moving forward and we are on board

Episode 39 of #Syngap10 - December 10, 2021  

- Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1 

- Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner 

- Syngap merch https://www.syngapresearchfund.org/shop 

- SRF’s Blog https://www.syngapresearchfund.org/blog 

- Fundraise https://syngap.fund/give 

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

 

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

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

 

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