30.7K
Downloads
173
Episodes
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
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
Friday Dec 22, 2023
Friday Dec 22, 2023
Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128
A few studies to make sure you are in over the holidays! One brand new!
- NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
- GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
- GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
- USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
- USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
- Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
Research Matters:
- Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024!
- 43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate
Fundraising - Let’s get to $2M!
- Give Up Your Cup - https://Syngap.Fund/GUYC23
- Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper
Reminder on resources:
- Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/
- Tell your Warrior Story - Deanna@curesyngap1.org
- Volunteer - https://curesyngap1.org/volunteer-with-srf/
- New Sibling Page - https://curesyngap1.org/syngap-siblings/
Great Press Lately -
- 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.html
Pods to catch up on!
Cafe Syngap1 Episode 7 is live!
The Juggle is Real
Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
Episode 128 of #Syngap10 - December 22, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Thursday Dec 14, 2023
Thursday Dec 14, 2023
12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/
9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx
9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html
10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1
12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/
12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx
12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/
Dream Team
https://www.linkedin.com/in/nashafitter/
https://www.linkedin.com/in/faridvij/
https://www.linkedin.com/in/elli-brimble-82774798/
https://www.linkedin.com/in/deven-mcgraw-6650285/
Hope for Harper is still going, help us meet the $15k match!
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
Tuesday Dec 12, 2023
Tuesday Dec 12, 2023
Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan!
Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org
Finances, we have two years of audited financials on https://curesyngap1.org/finances/
There are two reviews of the SYNGAP1 Conference and one of AES you need to read
S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/
S1 https://www.draccon.com/dracaena-report/syngap2023
AES https://www.draccon.com/dracaena-report/aes2023
End of year Giving is afoot!
Give up your cup https://givebutter.com/Iuwfzd
Albrecht Match https://givebutter.com/uNxleH aka Syngap.Fund/Harper
General Giving https://curesyngap1.org/donate/
Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca
Sign up for NET Study, email KHuba@jcu.edu 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
Wednesday Dec 06, 2023
Wednesday Dec 06, 2023
ICD-11 = LD90.Y #LD90Y
https://x.com/cureSYNGAP1/status/1730629792137883800
Adult paper and study
https://x.com/AledoNeuro/status/1726206128390848604
AES - Lots of SYNGAP1 incl paper with ciitizen data
https://x.com/JillianLMcKee/status/1731420167672942878
RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers
- Chow https://x.com/CNSdrughunter/status/1730233903602872424
- VUS https://x.com/CNSdrughunter/status/1730268276989571512
- Genetic Therapies https://x.com/dretico/status/1730298959824875741
FD23 - 60 Families from 16 Countries. Awesome leadership.
Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca
Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
https://www.eurekalert.org/news-releases/1006753
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
Episode 125 of #Syngap10 - December 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Saturday Nov 18, 2023
Saturday Nov 18, 2023
Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123
Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23
#SyngapConf https://Syngap.Fund/RT23
To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando!
FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018
Bravo to Jess Johnson & EAN
Amazing paper out from USC
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