SynGAP10 weekly 10 minute updates on SYNGAP1

https://feed.podbean.com/syngap10/feed.xml

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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 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

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

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/

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

Episode 121 of #Syngap10 - October 25, 2023

Tuesday Oct 24, 2023

Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio - #S10e120

Tuesday Oct 24, 2023

#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

Episode 120 of #Syngap10 - October 24, 2023

Monday Oct 09, 2023

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119

Monday Oct 09, 2023

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
https://x.com/UFDTech/status/1711488218636357818?s=20

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:

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

Give us 5 stars everywhere. Like Apple podcasts!

This is a podcast subscribe!

Episode 119 of #Syngap10 - October 9, 2023

Tuesday Oct 03, 2023

#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118

Tuesday Oct 03, 2023

#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/

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

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

Episode 118 of #Syngap10 - October 3, 2023

Friday Sep 29, 2023

Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117

Friday Sep 29, 2023

CALLS TO ACTION

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

Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9

Take this survey
1. Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
2. Tweet https://x.com/PedsGCAbby/status/1706446478904811750

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
Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/

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
Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories
Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR
10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS)
Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund

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!

- 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

Episode 117 of #Syngap10 - September 29, 2023

Monday Sep 18, 2023

Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Monday Sep 18, 2023

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

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
- 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

Sunday Sep 17, 2023

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Sunday Sep 17, 2023

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson

Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/

EURAS Project Press Release https://euras-project.eu/

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

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

Volunteer with SRF!

- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

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

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

Episode 115 of #Syngap10 - September 17, 2023

Sunday Sep 10, 2023

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Sunday Sep 10, 2023

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83

Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

- Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687

- Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525

CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk

ILAE Dublin was a great success -
- Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023
- Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1

Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison

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

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

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

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

Presentations

- Pharma - To follow https://syngap.fund/23

- UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda

- Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/

- It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA.

- If you have issues, email Virginie and Mequel.

CANNONBALL 3 is coming! October 4-6. Takeover coming soon.
- Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012

Share your time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

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 114 of #Syngap10 - September 10, 2023