SynGAP10 weekly 10 minute updates on SYNGAP1

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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/

Episodes

Tuesday Nov 29, 2022

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84

Tuesday Nov 29, 2022

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84

Targeting Epilepsy Meeting at St. Jude:

https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html

Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study

Go Team Canada and Overcome for Bowie Small Molecule Grant!
https://www.eurekalert.org/news-releases/960181
https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g

John Oldenhof, an #STXBP1 dad talks about two key points.
https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/

#S10e83 on Stoke and TimeOnDrug
https://www.youtube.com/watch?v=7uK2dCs53Ew

#GivingTuesday - Support SRF!

https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022

Genomenon:
https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html

Combined Brain:
https://combinedbrain.org/

Thank you Heather and Spark!
https://sparkforautism.org/discover_article/autism-answers-research/
https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g

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 84 of #Syngap10 - November 29, 2022

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

Tuesday Nov 22, 2022

#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83

Tuesday Nov 22, 2022

#ASO in episode #S10e80: https://youtu.be/xeo94GViXiw?t=240

I am #StokedAboutStoke

BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates

Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

Soiree: Incredible, Boston: Fabulous; & two to-dos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

Monday Nov 14, 2022

Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

ATLANTA was an incredible event and a success for more reasons than you think
- Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY
- Family connection is everything
- Raised funds from Atlanta community, it’s us folks.

Real but not True: https://www.psychologytoday.com/us/blog/finding-true-refuge/201702/real-not-true

BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/

You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th.

Send Summer a photo: Summer@SyngapResearchFund.org

Today! Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present

PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient

188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”

NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

8-8:30 WELCOME AND BREAKFAST - Lauren
8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler
11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A
12:00-12:30 LUNCH
12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia
1:30-1:55 PRAXIS - Title TBD
1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir
2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR
3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga
3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich
4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia
6:30-8:30 Community Dinner @ Deacon's New South

JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

JOIN US - 12/2 DINNER:
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner

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

Apple podcasts: https://syngap.fund/10a

Episode 80 of Syngap10 - November 10, 2022

Thursday Nov 10, 2022

SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81

Thursday Nov 10, 2022

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap

Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present

PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient

188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”

NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

JOIN US - 12/2 DINNER:
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner

GENETIC THERAPY UPDATES

#S10e80 https://youtu.be/xeo94GViXiw
:-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html
:-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/
- “we are working to develop an ASO against PRNP as a therapy for prion disease…
- Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it.
- I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.”

SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/

Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist=

Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt=

CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball

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

Apple podcasts: https://syngap.fund/10a

Episode 80 of Syngap10 - November 10, 2022

Monday Oct 31, 2022

ASOs in the news, let’s discuss in Nashville! #S10e80

Monday Oct 31, 2022

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888

CANNONBALL 2.0 - $156,802

Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html

Total: https://www.justgiving.com/fundraising/ufd-cftc-2022

Tweet: https://twitter.com/UFDTech/status/1585640994652889089

Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8

Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU

#S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU

FOUR EVENTS

LA: 11/1: https://epilepsyawarenessday.org/event-info/information/

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap

BOSTON: 11/13 Call Sandy.

NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

Another incidence paper! Thanks Maddie Gillentine, PhD:

https://twitter.com/maddieag/status/1586421844566908928

4/100 number: https://twitter.com/maddieag/status/1586422427076022273

ASOs

ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides

Sad news KCNT1

News: https://twitter.com/cureSYNGAP1/status/1585613781467484160
Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705

Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001

Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674

Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy

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

Apple podcasts: https://syngap.fund/10a

Episode 80 of Syngap10 - October 31, 2022

Monday Oct 24, 2022

#UFDcure CANNONBALL2 is a wrap/half done. #S10e79

Monday Oct 24, 2022

CANNONBALL!

Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022

Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIo
UPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8
Twitch: https://www.twitch.tv/ufdisciple

Brett: https://twitter.com/UFDTech
Peter: https://twitter.com/phalliburton
Kevin: https://fryereeves.com/kevin-w-frye/

VISITS

Pavel: https://twitter.com/SydneyStel/status/1584233335554854915/photo/2
Sydney: https://twitter.com/SydneyStel/status/1583079166014263296?s=20&t=YGu_OlFePZ5_jEhZvMj97g
Rebecca: https://twitter.com/SydneyStel/status/1584233335554854915/photo/3
Virginie: https://twitter.com/McNamarVirginie/status/1583871153231183872?s=20&t=YGu_OlFePZ5_jEhZvMj97g
Lauren: https://twitter.com/UFDTech/status/1584003603463045120?s=20&t=YGu_OlFePZ5_jEhZvMj97g

RAREBASE

https://www.rarebase.org/

AMAZING PRESS

TV - CBS - NY
https://www.cbsnews.com/newyork/news/dads-take-dares-for-donations-on-cross-country-road-trip-raising-money-for-syngap1-research/

FORBES https://www.forbes.com/sites/billroberson/2022/10/21/electric-cannonball-run-dads-drive-a-tesla-model-y-cross-country-to-fight-a-disease-affecting-their-sons/

FOX
https://www.foxnews.com/us/dads-drive-across-country-expand-awareness-kids-rare-disease

TONY

https://threadreaderapp.com/thread/1582766217810493441.html

UPCOMING EVENTS

NOVEMBER IS GIVING SEASON!

3 Weeks:
- November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap
- November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

6 Weeks:
December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

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

Apple podcasts: https://syngap.fund/10a

Episode 79 of Syngap10 - October 23, 2022

Thursday Oct 13, 2022

Event recaps with special guest hosts #S10e78

Thursday Oct 13, 2022

EVENT RECAPS

October 8th
-New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

- South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

UPCOMING EVENTS

8 Days:
- October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase

NOVEMBER IS GIVING SEASON!

4 Weeks:
- November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap
- November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

7 Weeks:
December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

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

Apple podcasts: https://syngap.fund/10a

Episode 78 of Syngap10 - October 13, 2022

Tuesday Oct 04, 2022

SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77

Tuesday Oct 04, 2022

INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY!
https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984
https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3

GRANT ALERT
Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873

COMPANY UPDATE
Stoke Tx https://www.stoketherapeutics.com/
Praxis Medicine https://praxismedicines.com/
Rarebase https://www.rarebase.org/
Beacon Biosignals https://beacon.bio/
Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax
Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride
Tevard https://tevard.com/

EVERY PATIENT MATTERS
Census is now at 1,135 Patients. https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022
https://twitter.com/cureSYNGAP1/status/1576246751974944768

GLOBAL FILE
SRF Site is now in all Languages!
Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see
- https://twitter.com/JMGraglia/status/1577319370081980416
- https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv

EVENTS ARE COMING
NEXT WEEK on October 8th!
New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
News Report: https://www.youtube.com/watch?v=a7sBTkL5KLo

2 Weeks:
October 12-15 in OH - Child Neurology Society

3 Weeks:
October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase

NOVEMBER IS GIVING SEASON!

6 Weeks:
November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap
November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

8 Weeks:
December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

etc.

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

Apple podcasts: https://syngap.fund/10a

Episode 77 of Syngap10 - October 4, 2022

Monday Sep 26, 2022

Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76

Monday Sep 26, 2022

EVERY PATIENT MATTERS

Lots of work with doctors these days.
e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706
e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344

WE ARE GLOBAL

SRF Site is now in all Languages!

Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72

Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo!

Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/

Netherlands 🇳🇱- We have a Rare-X Platform and everyone should engage. Sign up at
https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program
Watch #S10e71 starting at 5:30 https://youtu.be/iPoOjKBwPfY?t=333
Sign up: https://syngap1.rare-x.org/

UK 🇬🇧- News coming.

EVENTS ARE COMING

2 Weeks on October 8th!
New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

3 Weeks:
October 12-15 in OH - Child Neurology Society

4 Weeks:
October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase

NOVEMBER IS GIVING SEASON!

7 Weeks:
November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap
November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient

10 Weeks:
December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

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

Apple podcasts: https://syngap.fund/10a

Episode 76 of Syngap10 - September 25, 2022

Sunday Sep 18, 2022

We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾‍💻 Simons & Invitae #S10e75

Sunday Sep 18, 2022

GLOBAL GENES WAS GREAT

Panel was impressive, will be sharing when recording is live, one point was small molecules…
#GlobalGenes #CareAboutRare

EVENTS ARE COMING

3 weeks!
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap

8 weeks!
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

11 weeks!
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

RAREBASE

Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s

We are investing in small molecule repurposing as fast as we can. Four lines…

Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022!

LINK#UFDtech #CannonballForTheCure #RareBase

NOSPHARMA

Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8

Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible.
…from https://www.linkedin.com/company/nospharma/
#NOSpharma

SIMONS/INVITAE PARTNERSHIP

Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF.
https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html
Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122
#SimonsFoundation #Autism #Invitae #ciitizen

Satterstrom paper associates SYNGAP1 with Autism strongly
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/
See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1

AUTISM BRAIN NETWORK

Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/

etc.

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

Apple podcasts: https://syngap.fund/10a

Episode 75 of Syngap10 - September 18, 2022