12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/

9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx

9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html

10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1

12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/

12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx

12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/

Dream Team

https://www.linkedin.com/in/nashafitter/

https://www.linkedin.com/in/faridvij/

https://www.linkedin.com/in/elli-brimble-82774798/

https://www.linkedin.com/in/deven-mcgraw-6650285/

Hope for Harper is still going, help us meet the $15k match!

https://syngap.fund/harper 

https://givebutter.com/uNxleH

The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

Today a SYNGAP1 patient was dosed with 4PB.  Thank you Dr. Grinspan!

Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org 

Finances, we have two years of audited financials on https://curesyngap1.org/finances/ 

There are two reviews of the SYNGAP1 Conference and one of AES you need to read

 S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ 

 S1 https://www.draccon.com/dracaena-report/syngap2023  

 AES https://www.draccon.com/dracaena-report/aes2023  

End of year Giving is afoot!

 Give up your cup https://givebutter.com/Iuwfzd  

 Albrecht Match https://givebutter.com/uNxleH  aka Syngap.Fund/Harper

 General Giving https://curesyngap1.org/donate/ 

Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected] 

Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date!

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

ICD-11 = LD90.Y #LD90Y

https://x.com/cureSYNGAP1/status/1730629792137883800

Adult paper and study

https://x.com/AledoNeuro/status/1726206128390848604

AES - Lots of SYNGAP1 incl paper with ciitizen data

https://x.com/JillianLMcKee/status/1731420167672942878

RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers

 - Chow https://x.com/CNSdrughunter/status/1730233903602872424

 - VUS https://x.com/CNSdrughunter/status/1730268276989571512

 - Genetic Therapies https://x.com/dretico/status/1730298959824875741

FD23 - 60 Families from 16 Countries.  Awesome leadership.

Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected] 

Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123

Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23

#SyngapConf https://Syngap.Fund/RT23

  To help onsite with set up, registration, or anything else, contact Ashley ([email protected]), Kali ([email protected]), Corey ([email protected]) or Ed ([email protected]) or see them in Orlando!

FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018

Bravo to Jess Johnson & EAN

https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/ 

Amazing paper out from USC

https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/ 

Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

Three Todos:

1 - Come to the #SRFconf and be sure to buy dinner tickets!

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 

2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz

3 - Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

EEGS MATTER

To get an EEG Biomarker, you need to collect EEGs.  Not simple.

This eg from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997)

https://www.sciencedirect.com/science/article/pii/S2667174321000380

Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1

SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud)

Where’s our paper?

Beacon Biosignals is a company we know: https://beacon.bio/

You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you.

https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html 

EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images).  Check out Tony’s

https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier 

We need endpoints and assessment tools.  We can help make it happen with this study.  Let’s get to 100 participants.  

#SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html 

How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link

Two papers already!!

Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome

https://pubmed.ncbi.nlm.nih.gov/37045800/

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

https://pubmed.ncbi.nlm.nih.gov/37534867/ 

Raise funds for SYNGAP1 Research via SRF

https://syngap.fund/give

https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt

Register for the Dinner & Conference!

29 Days until the Conference - Join us!

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 

#SyngapConf Conference Agenda!

#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I 

Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”

Types of mutations

https://youtu.be/xYOK-yzUWSI 

SYNGAP1 on Alphafold

https://alphafold.ebi.ac.uk/entry/F6SEU4 

Dr. Underbake on Disordered/Unstructured Proteins

https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 

Common Missense

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

Young c.980T>C p.Leu327Pro

http://clinvar.com/ SYNGAP1 c.980C>T

2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/

2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/ 

SRF iPSCs

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

Dr. Courtney Grant

https://www.eurekalert.org/news-releases/957967 

Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations 

Dr. Haas Webinar

https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas 

EpiMVP

https://epimvp.med.umich.edu/ 

https://leonandfriends.org/ started this work

https://www.syngapresearchfund.org/leon 

#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk 

Register for the Conference!

35 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

#SyngapConf Conference Agenda Announced!

#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I 

Press release  https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

#SyngapConf Conference Agenda Announced!

https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf 

Register for the Conference!

37 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

Dinner is Separate - Join us!

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner 

Nancy is a gem

https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler 

Gala was a huge success

https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund 

#PCEM2023 was fun

https://x.com/Science_Hood/status/1716471587275227389

Vicky’s at #BIOPatientSummit23 

https://x.com/VickyAArteaga/status/1716506175024361836

https://x.com/VickyAArteaga/status/1716176260244611354

Give us 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

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

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

My trip summary to CHOP.

Melissa and her family are remarkable. “Doing this for the next generation.”

Why are we afraid to hope?  Because fear is winning.  Everything comes from Fear or Love.  Focus on the love.  Feed that one.

https://www.demellospirituality.com/love-or-fear/

https://www.urbanbalance.com/the-story-of-two-wolves/ 

#UFDCure Cannonball - October 4-6

$128,075.83 so far at 83.6%

https://www.youtube.com/watch?v=ilnPIwVy6oY 

https://www.syngapresearchfund.org/cannonball

Scramble - October 7, 2023

Have you read the Syngap Story on Julie yet? 

52 Days until the Conference - Sign up by Halloween - We need head counts.

Registration & Hotels 

Conference and Wild Type Shirts: 

Give us 5 stars everywhere.  Like Apple podcasts!

This is a podcast subscribe!

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

#SyngapCensus

https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297

#UFDCure Cannonball - October 4-6

https://www.syngapresearchfund.org/cannonball

Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure

Pre-party https://x.com/UFDTech/status/1709366677261987862

Scramble - October 7, 2023

Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019

Site

https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund

PRAX-222 & ciitizen

Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg

Pressers

9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html 

10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day 

#mustread

Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining 

Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/ 

Wild Type Campaign

https://www.bonfire.com/wild-type-syngap1-1/ 

Conference - Sign up by Halloween - We need head counts.

Registration link: https://Syngap.Fund/Orlando  

Hotels: https://Syngap.Fund/2023hotel 

Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer!

Give us 5 stars everywhere.  Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

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

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