124 episodes
SynGAP10 weekly 10 minute updates on SYNGAP1 SYNGAP1 Podcasts by SRF
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5.0 • 80 Ratings
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SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.
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Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123
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
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat -
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The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123
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 -
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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
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
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat -
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SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121
“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
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat -
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Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio - #S10e120
#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
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat -
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“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119
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/cannonballhttps://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
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Customer Reviews
This is quality
So much passion. Great resource.
Amazing podcast for families
If you have a loved one with syngap1 you need to listen to this every week.
Passion and Compassion!
Every episode is full of the latest news, important studies, exciting events, incredible volunteers, and of course wonderful Warriors. I look forward to every episode!