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

CALLS TO ACTION

• Plan on Rare on the Hill - Week of February 25th in DC

• Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I

1. Take this survey
   1. Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM 

Great papers

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

https://x.com/cureSYNGAP1/status/1706770818703953955

Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models

https://x.com/cureSYNGAP1/status/1706772916543893597

Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex

https://x.com/cureSYNGAP1/status/1707475941348540894?s=20

We’re at 248 before the BioRxiv

https://x.com/cureSYNGAP1/status/1707516877558501652?s=20 

Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1

https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1 

Sign up for the next one

10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels

https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels 

ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland 

More Recent Killer Content

• Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA 

• Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5

Upcoming Amazing Events

• Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball

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

Congrats to…

 - Katrien on the ILAE #SYNGAP10 #S10e115 

Webinar coming up:

  Behaviour, Cognition and Sensory Processing in People with SYNGAP1

  Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg

  Sept 28 @ 9am PT/ 5pm GMT

  Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s 

Events to mention in SYNGAP10

 - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike

 - 2nd Scientific Conference in Spanish (virtual) 9/23

 - Scramble 10/7 Julie Miles https://syngap.fund/scramble 

 - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR

 - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3 

 - Conference 11/30 & 12/1 + Sea World or Disney 12/2

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!

Donate to the biorepository in OH or IL:

- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

Episode 116 of #Syngap10 - September 18, 2023

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

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne 

 - Katrien on the ILAE #SYNGAP10 #S10e115 

Webinar coming up:

  Behaviour, Cognition and Sensory Processing in People with SYNGAP1

  Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg

  Sept 28 @ 9am PT/ 5pm GMT

  Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s 

Events to mention

 - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike

 - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!

 - Scramble 10/7 Julie Miles https://syngap.fund/scramble 

 - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR

 - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3 

 - Conference 11/30 & 12/1 + Sea World or Disney 12/2

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/ 

Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!

 - Volunteer!

Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 

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/channel/syngap1-podcasts-by-srf/id6464522917

Episode 116 of #Syngap10 - September 18, 2023

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