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

Friday Dec 22, 2023

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128

Friday Dec 22, 2023

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128

A few studies to make sure you are in over the holidays! One brand new!

NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
Texas: QEEG at Cook Childrens. Email Corey.

All studies are on https://curesyngap1.org/studies/

Research Matters:

Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024!
43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate

Fundraising - Let’s get to $2M!

Give Up Your Cup - https://Syngap.Fund/GUYC23
Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper

Reminder on resources:

Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/
Tell your Warrior Story - Deanna@curesyngap1.org
Volunteer - https://curesyngap1.org/volunteer-with-srf/
New Sibling Page - https://curesyngap1.org/syngap-siblings/

Great Press Lately -

Pods to catch up on!
Cafe Syngap1 Episode 7 is live!

https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895

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

Episode 128 of #Syngap10 - December 22, 2023

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

Thursday Dec 14, 2023

Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127

Thursday Dec 14, 2023

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

Episode 127 of #Syngap10 - December 14, 2023

Tuesday Dec 12, 2023

A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! - #S10e126

Tuesday Dec 12, 2023

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/

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

Episode 126 of #Syngap10 - December 12, 2023

Wednesday Dec 06, 2023

ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

Wednesday Dec 06, 2023

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 NET Study, email KHuba@jcu.edu 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

Episode 125 of #Syngap10 - December 6, 2023

Saturday Nov 18, 2023

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

Saturday Nov 18, 2023

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 (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) 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 KHuba@jcu.edu 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

Episode 124 of #Syngap10 - November 18, 2023

Friday Nov 03, 2023

The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123

Friday Nov 03, 2023

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 KHuba@jcu.edu 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

Episode 123 of #Syngap10 - November 3, 2023

Wednesday Nov 01, 2023

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

Wednesday Nov 01, 2023

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

Episode 122 of #Syngap10 - November 1, 2023

Wednesday Oct 25, 2023

SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121

Wednesday Oct 25, 2023

“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/