Avsnitt
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TOGETHER WE ARE STRONGER
- 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/
- Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”
- Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001
WELCOME AND CONNECT
- New parents are coming fast, reach out to them, tell them how much hope to have.
- Connect, connect, connect.
- San Diego next week: https://curesyngap1.org/resources/movies/jaxon/
- Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
- TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo
TEAM IS GROWING
BOARD - https://www.eurekalert.org/news-releases/1038978
CSO - https://www.eurekalert.org/news-releases/1040061
COO - You?
PRESS
- UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/
- GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/
What does my genetic report mean?
We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower).
Who else has it? Look on ClinVar and call SRF.
Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/
STUDIES
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: [email protected]
Adults:
- Press Release: https://www.eurekalert.org/news-releases/1040062
- Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24 39 and counting.
#Sprint4Syngap 2024
Total: $168,572 from 347 people
Tavilla: $126,385 from 62
Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn.
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
REPURPOSING
- NAL, blog coming.
- Ravicti, enrolled, and blog on Butyrate coming.
- Nortriptyline, has been game changing, discussing a larger trial.
REFLECTIONS
- Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla
- Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE
- Tony update. Grateful and grieving.
SOCIAL MATTERS
967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 138 of #Syngap10 - April 4, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)
Stoke Therapeutics #StokedAboutStoke
Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential
I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706
This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew
Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11
Longboard Pharma https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial
Studies
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: [email protected]
Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24
Fundraisers
247 supporters have us at $79k
Team Tavilla is over half of that at $47k
Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn.
Rifton bike for S4S anyone at $500+. 247 Supporters!https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
Social Matters
953 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 137 of #Syngap10 - March 26, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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Saknas det avsnitt?
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Do this study for UCB: https://Syngap.Fund/QOL24
Two killer publications:
Boston -
https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9
Penn/ENDD -
https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X
Email Info at CureSYNGAP1 dot org for PDFs!
Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!
Background: https://www.youtube.com/watch?v=pagFzSmYK8E
Repurposing is moving apace! More as we have it. Ravicti. Butyrate. Nortriptyline. Acetylleucine.
Sprint4Syngap is our current fundraiser, get in there and join us!
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
Sprint4Syngap Total: $33,704. Tavilla Total: $6,695
Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 136 of #Syngap10 - March 16, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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DC was epic, come next year!
- Board Meeting and Leadership Team.
- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!
https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l
- Last week of Feb, don’t miss it.
#RareBrewCoffee has launched!
https://rarebrewcoffee.com/ use code SRF10
Reflecting on the latest Rick Huganir paper
- This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year.
- We are not a Rasopathy! https://x.com/cureSYNGAP1/status/1763644994685153654?s=20
- We need to have Prof. Huganir do a webinar!
#DEI #SyngapWhileBlack Nice work Petersen family
https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/
State Coordinators and Advocates Sign up
- We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform
- Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories
We still do warriors, 198 is from Poland!
- https://x.com/cureSYNGAP1/status/1763006900939956252?s=20
- https://curesyngap1.org/syngap-warriors/igor/- Are you are warrior yet? https://curesyngap1.org/syngap-warriors/
Repurposing - Thought for the week
- When you try a new molecule, any new molecule, take notes, videos and pictures. - IF a drug increases cognition, expect frustration, at first.- Make sure you watch episode 134, even if it’s long because I really go deep on repurposing. https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z
Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000
https://www.youtube.com/@CureSYNGAP1
List of repurposed drugs:
Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQwsNAL - https://www.youtube.com/watch?v=TphYC3o2BJQ Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/Siblings - Order a kit, thank you UCB @UCBUSA
https://curesyngap1.org/sibling-support/
Ed’s notes:
- Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY
- Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view
- Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/
Scholarship
- UCB USA Family Epilepsy Scholarship
- Blog - https://Syngap.Fund/UCB24
- Diagnosed with Epilepsy or immediate family member or caregiver
- Seeking higher education
- Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view
Fundraising
- Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24 https://www.rifton.com/ (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.)
- MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/
- S.Carolina3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/
- 3rd SYNGAP1 Conference, hosted by SRF in LA
- Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
- Planning committee needs volunteers; if interested in helping, contact [email protected] #SyngapConf
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 135 of #Syngap10 - March 3, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I
Rochester - Check. I asked in #S10e132 to do this and you stepped up, thank you. We hit 200!
Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A
The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.
Repurposing:
Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say”
Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38
List of repurposed drugs:
Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQwsNAL - https://www.youtube.com/watch?v=TphYC3o2BJQ Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs Fycompa® (perampanel) - Need to have a webinar on this.Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone. Wow.
Ethics. Is it ethical to sit back and let our kids suffer?
Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen! Thank you to those working on CZI grant too!
Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html
Ed said:
Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/StoriesCafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/CafeGet Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24 https://www.rifton.com/ (9 teams signed up as of 2/23 - we had 28 teams in 2023;)Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj) Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/); Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F).SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact [email protected] #SyngapConfSYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQAddison’s Warrior Story - https://curesyngap1.org/syngap-warriors/addison/We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you’re not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resourcesState Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)Upcoming
Rare Disease Day - join us in DC; two blog posts:Rare Disease Day 2024 - what is it and how can you help SYNGAP1?You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2IFundraising
Getting organized:MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ 2nd annual Golf Tourn in Canada 6/8CFTC early-mid Sept? Link to past events is here: https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/ 3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ 4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here: https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24PrePodcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 134 of #Syngap10 - Feb 24, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611
B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)
C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)
D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability
E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)
F. SYNGAP1 Related-ID - ICD-10 & Hopkins - https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023) - https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021)
G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders
H. SYNGAP1 Syndrome - ICD-11 - https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024)
My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD).
These monogenic disorders are anything but monolithic.
Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003)A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome.
NDD vs DEE - We are a DEE“Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.”https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html
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 133 of #Syngap10 - Feb 13, 2024#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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TWO Gene therapy INDs approved in the past week!
JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/
ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/
Mike’s Gene Therapy Cheat Sheet
https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing
TAKE THE ROCHESTER SURVEY
https://redcap.link/NDDCaregiverSurvey
SPRINT FOR SYNGAP24 is on!
https://Syngap.Fund/Sprint24
APARITO ANNOUNCEMENT
LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/
X - https://x.com/cureSYNGAP1/status/1751969751621046667
FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl
This is the program: https://www.aparito.com/patient-group-programme/
RAVICTI GROUP
https://www.facebook.com/groups/butyrate/
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 132 of #Syngap10 - February 6, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131
Three patient stories… with the same conclusion, we don’t know enough about this disease.
- VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/
- Little lady on Kepra finally getting a new drug.
- Big man getting really odd care, based on EEG
These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected]
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected]
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: [email protected] 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.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
REPURPOSING
Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention. We have a hit from Chow that we are validating. Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here.
Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_
Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm
I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha. https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv
New Things to Know about!
CHANGES STUDY
New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later
Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view
All Studies: https://curesyngap1.org/studies/
UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24
Application deadline March 15Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago
Rare Disease Day
What is Rare Disease Day & why is it the last day in February?You Should Represent SYNGAP1 During Rare Disease Week on Capitol HillFundraising
Get Ready for Sprint - save the date 4/27/24Getting organized:MDBR 6/82nd annual Golf Tourn in Canada 6/83rd annual Scramble 10/54th annual SRF Gala honoring Caren Leib 10/183rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24PreNew webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/WaysGive 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 131 of #Syngap10 - January 23, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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All week on an article (coming soon), but still time to…
Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/ See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8 Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol could save us a placebo arm.PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/
Ed's been busy!
Cafe Syngap Episode 8 went live
https://curesyngap1.org/podcasts/cafe-syngap1/
Conference Family Day Recap by Paulina Polanco
https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/
Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube
https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD
Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view
CHOP/ENDD (need 50 more)
https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view
Newsletter #36 out Saturday AM Jan 6
https://mailchi.mp/syngapresearchfund.org/2023recap
Resolutions for 2024
https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit
Attend a conference or two (pre-register for Los Angeles)
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact [email protected] or [email protected])
Upcoming
Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PTRare Disease Day - join us in DC; two blog posts:What is Rare Disease Day & why is it the last day in February?
https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/
You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill
https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/
Sign up for the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected]
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected]
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: [email protected] 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.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
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 130 of #Syngap10 - January 12, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data:
https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data
Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment. Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week! (But it's never linear.)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate
Guess what the first pub in 2024 is about, CBD!
https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857
This reminds me of a crazy story I heard this week, I need to share:
Dr. won't add ClobazamDr. pulled rec for CHOP with silly argument, Why he was wrong:QEEG is differentExperts are experts and too fewIRB approved studies gather data in a consistent way and help identify endpoints.Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/
Tony Update, 10 tomorrow.
It's been a rough yearMVSD has failed spectacularlyAll the schools are full and the one that wanted to grow, can't.Sign up for the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected]
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected]
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: [email protected] 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.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/ (edited)
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 129 of #Syngap10 - January 5, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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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/NDDCaregiverSurveyGLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected]: 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: [email protected] 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=pubdateFundraising - Let’s get to $2M!
Give Up Your Cup - https://Syngap.Fund/GUYC23Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harperReminder on resources:
Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/Tell your Warrior Story - [email protected] - https://curesyngap1.org/volunteer-with-srf/New Sibling Page - https://curesyngap1.org/syngap-siblings/Great Press Lately -
Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.htmlPods 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
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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
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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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 Episode 126 of #Syngap10 - December 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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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 Episode 125 of #Syngap10 - December 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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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 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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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 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
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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“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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#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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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
- Visa fler
