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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
Thursday Apr 04, 2024
Thursday Apr 04, 2024
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: ENDD@chop.edu
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
Tuesday Mar 26, 2024
Tuesday Mar 26, 2024
Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)
Stoke Therapeutics #StokedAboutStoke
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: ENDD@chop.edu
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/
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/id6464522917
Episode 137 of #Syngap10 - March 26, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
Saturday Mar 16, 2024
Saturday Mar 16, 2024
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
Monday Mar 04, 2024
Monday Mar 04, 2024
DC was epic, come next year!
- Board Meeting and Leadership Team.
- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!
- 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=Rwwdifsu1g8
- Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
- NAL - 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 stacey@curesyngap1.org #SyngapConf
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 135 of #Syngap10 - March 3, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
Saturday Feb 24, 2024
Saturday Feb 24, 2024
#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=Rwwdifsu1g8
- Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
- NAL - 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/Stories
- Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe
- 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/ (9 teams signed up as of 2/23 - we had 28 teams in 2023;)
- Orlando Family Day Videos
- Uploaded 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 stacey@curesyngap1.org #SyngapConf
- SYNGAP1 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=EqNEhROdzvfGZxEQ
- Addison’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=20
- 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
- State 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 resources
- State 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:
Fundraising
- 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 6/8
- CFTC 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/24Pre
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 134 of #Syngap10 - Feb 24, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday Feb 13, 2024
Tuesday Feb 13, 2024
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
Wednesday Feb 07, 2024
Wednesday Feb 07, 2024
TWO Gene therapy INDs approved in the past week!
JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/
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!
APARITO ANNOUNCEMENT
LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/
X - https://x.com/cureSYNGAP1/status/1751969751621046667
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
Monday Jan 22, 2024
Monday Jan 22, 2024
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. Ilakkiah.Chandran@uhn.ca
3 - 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
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: 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.
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 15
- Same 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 Hill
Fundraising
- Get Ready for Sprint - save the date 4/27/24
- Getting organized:
- MDBR 6/8
- 2nd annual Golf Tourn in Canada 6/8
- 3rd annual Scramble 10/5
- 4th annual SRF Gala honoring Caren Leib 10/18
- 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
- New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways
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 131 of #Syngap10 - January 23, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Friday Jan 12, 2024
Friday Jan 12, 2024
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 AFrye@curesyngap1.org or Merlina@curesyngap1.org)
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 PT
- Rare 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. Ilakkiah.Chandran@uhn.ca
3 - 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
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: 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.
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
Friday Jan 05, 2024
Friday Jan 05, 2024
I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the 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 Clobazam
- Dr. pulled rec for CHOP with silly argument, Why he was wrong:
- QEEG is different
- Experts are experts and too few
- IRB 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 year
- MVSD has failed spectacularly
- All 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. Ilakkiah.Chandran@uhn.ca
3 - 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
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: 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.
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