Shows
SynGAP10 weekly 10 minute updates on SYNGAP1AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156Tuesday, December 17, 2024
Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Summary: http://www.draccon.com/dracaena-report/2024aes
A few comments:
https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV
https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ
https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF
https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy
https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq
https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW
https://www.linkedin.com/posts/s...2024-12-1821 min
SynGAP10 weekly 10 minute updates on SYNGAP1Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151📝Full show notes: https://curesyngap1.org/podcasts/syngap10/
Census is at 1,497! Syngap.Fund/Census
Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox
- UFD Tech, $52,094
- Scramble, $28,000
Current Efforts:
- Coast2Coast Challenge $42,691 Syngap.Fund/C2C
- Missense Account of the Fund $23,684
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
- Charmander $10,585
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
- Emmy $8,173
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fu...2024-10-1828 min
SynGAP10 weekly 10 minute updates on SYNGAP1Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149📝Full show notes: https://syngap.fund/n149
FRAZIER STUDY
https://Syngap.Fund/Eye2 khuba@jcu.edu
SRD JOINS CFC #33321
https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
PRESS ABOUT FOF (Friends of the Fund)
Praxis https://firstwordpharma.com/story/5891543
Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/
RESEARCH UPDATE
There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain.
https://p...2024-09-1017 min
SynGAP10 weekly 10 minute updates on SYNGAP1Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149📝Full show notes: https://syngap.fund/n149
FRAZIER STUDY
https://Syngap.Fund/Eye2 khuba@jcu.edu
SRD JOINS CFC #33321
https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
PRESS ABOUT FOF (Friends of the Fund)
Praxis https://firstwordpharma.com/story/5891543
Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/
RESEARCH UPDATE
There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m c...2024-09-1017 min
SynGAP10 weekly 10 minute updates on SYNGAP1Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148📝Full show notes: https://syngap.fund/n148
BACK TO SCHOOL 2024
Push the schools to do better, at every turn.
Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia
STUDY
https://Syngap.Fund/UB (Unravel Biosciences)3 forms to fill out, please let us know if you want to participate.
PRESIDENT & COO SEARCH
https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/
RESEARCH UPDATE
There are 293 papers on or related to SYNGAP1 since 1998, but...2024-08-2223 min
SynGAP10 weekly 10 minute updates on SYNGAP1Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148📝Full show notes: https://syngap.fund/n148
BACK TO SCHOOL 2024
Push the schools to do better, at every turn.
Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia
STUDY
https://Syngap.Fund/UB (Unravel Biosciences)
3 forms to fill out, please let us know if you want to participate.
PRESIDENT & COO SEARCH
https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/
RESEARCH UPDATE
There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in...2024-08-2223 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147📝Full show notes: https://syngap.fund/n147
FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24
SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing.
https://curesyngap1.org/team/leadership-team/jackie-kancir/
ADULT ADVOCACY
SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult
Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQk
Foundation: https://colinfarrellfoundation.org/
WaPo Article: https...2024-08-1220 min
SynGAP10 weekly 10 minute updates on SYNGAP1Title: Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146📝Full show notes: https://syngap.fund/n146
Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110
Newsletter #39 - syngap.fund/NL39
https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566
Cafe Syngap16
https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/
Zempleni Grant
https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/
Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC
Webinar: https://curesyn...2024-07-2727 min
SynGAP10 weekly 10 minute updates on SYNGAP1Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146📝Full show notes: https://syngap.fund/n146
Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110
Newsletter #39 - syngap.fund/NL39
https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566
Cafe Syngap16
https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/
Zempleni Grant
https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/
Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC
Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-his...2024-07-2727 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136Do 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. But...2024-03-1617 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136Do 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.
Sprint4Sy...2024-03-1617 min
SYNGAP1 StoriesJulie Miles, SRF BOD member, talks about Miller's SYNGAP1 journey, getting 'The Call', activities Miller loves, the upcoming Scramble for SynGAP, & patience.Show Notes:
Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP’ in Traveler’s Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming!
Julie’s SRF Bio
WSPA-7 News Video
Scramble for SynGAP
Follow Ashley Frye:
SRF Bio
LinkedIn...2023-10-0347 min
SynGAP10 weekly 10 minute updates on SYNGAP1Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83
Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
- Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687
- Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525
CHOP...2023-09-1116 min
SynGAP10 weekly 10 minute updates on SYNGAP1Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525CHOP - Sign up! https://drive.google.com...2023-09-1116 min
SYNGAP1 StoriesSuzanne Jones, SRF BOD chair & Mom to Syngapian Jansen, talks about raising funds for SRF, including the upcoming SynGAP Soirée, and raising Jansen!Show Notes:
Suzanne Jones, SRF BOD chair & SYNGAP1 Mom, chats with Ashley about the upcoming Syngap Soirée fundraiser in Atlanta, caregivers, eating out (or not!), Jansen’s behavioral issues as well as her recent speech improvements, and advice to parents to modify their expectations when receiving a rare disease diagnosis.
Connect with Suzanne
SRF BIO
Facebook
Instagram
LinkedIn
Jansen’s Warrior Story
Jansen’s Journey
More links:
Syngap Soirée, Sparks of Hope - Atlanta, GA, August 26, 2...2023-08-0846 min
SynGAP10 weekly 10 minute updates on SYNGAP1Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
RECENT EVENTS
MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration
Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU
Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing
Family Video and Fundraiser:
Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM
Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday
SRF in the...2023-06-1408 min
SynGAP10 weekly 10 minute updates on SYNGAP1Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
RECENT EVENTS
MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration
Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU
Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing
Family Video and Fundraiser:
Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM
Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday
SRF in the World:
SRF in Mexico...2023-06-1408 min
SynGAP10 weekly 10 minute updates on SYNGAP1THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en espanol & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events.
SynGAP Paddle Slap
Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00.
Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926
Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html
Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's...2023-06-0619 min
SynGAP10 weekly 10 minute updates on SYNGAP1Connection for Science - #S10e104Long trip, but first…
Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors 2023-05-1021 min
SynGAP10 weekly 10 minute updates on SYNGAP1McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAdayWebinars
McKEE 4/27 https://syngap.fund/mckee - Ciitizen SYNGAP1 count is over 212
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN & Update https://app.ciitizen.com/
SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste
#Sprint4Syngap - 4 days, April 29, 2023
- $210k, 652 donors.
- https://syngap.fund/sprint
- Fundraising page: https://syngap.fund/sprint23
What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368
Caregiver Connect from DSF
Video modules are broken down into four imp...2023-04-2613 min
SynGAP10 weekly 10 minute updates on SYNGAP1McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAdayWebinars
McKEE 4/27 https://syngap.fund/mckee
- Ciitizen SYNGAP1 count is over 212
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN & Update https://app.ciitizen.com/
SMITH 5/11 https://syngap.fund/smith
LACOSTE 5/18 https://syngap.fund/lacoste
#Sprint4Syngap - 4 days, April 29, 2023
- $210k, 652 donors.
- https://syngap.fund/sprint
- Fundraising page: https://syngap.fund/sprint23
What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368
Caregiver Connect from DSF
Video modules...2023-04-2613 min
SYNGAP1 StoriesIt's Ashley's turn, as she talks about her beginnings of volunteering for SRF and what she's working on now! Pickleball, anyone?Show Notes:
In episode 6, we turn the tables on our host. Ashley talks about volunteering for SynGAP Research Fund, organizing the SYNGAP1 Conference 2023 hosted by SRF, and the first SynGAP Paddle Slap coming up on May 6 in Oxford, MS.
SYNGAP1 Conference 2023, hosted by SRF - Hotel Reservations
SynGAP Paddle Slap - https://Syngap.Fund/Paddle23
USA Pickleball
The Oxford Park Commission
The Farmstead, Oxford, MS
Live Band - Rocket 88
Bounce Castles donated by Blue Line Inflatables
Follow Ashley Frye:
Facebook
LinkedI...2023-04-1831 min
SynGAP10 weekly 10 minute updates on SYNGAP1SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101
What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368
Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481
Thanks to Kevin for going to Gatlinburg
- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097
Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles...2023-04-1520 min
SynGAP10 weekly 10 minute updates on SYNGAP1SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368
Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481
Thanks to Kevin for going to Gatlinburg
- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097
Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases”
https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with
Sibling day
J...2023-04-1520 min
SYNGAP1 StoriesAshley's Guest - SRF Community Activation Leader Corey BaysdenShow Notes:
In Episode 3, Ashley talks with SYNGAP1 Mom Corey Baysden. Corey talks about the joys of raising Saylor as well dealing with a difficult diagnosis and finding a community in SRF. As SRF Community Activation Leader, Corey communicates with and advocates for many newly diagnosed families. You can reach her at corey@syngapresearchfund.org.
Saylor’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/saylor
Follow Corey Baysden:
Facebook
LinkedIn
Instagram
Twitter
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Rese...2023-03-0733 min
SynGAP10 weekly 10 minute updates on SYNGAP1Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - Date TDB - https://syngap...2023-02-2311 min
SynGAP10 weekly 10 minute updates on SYNGAP1Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- J...2023-02-2311 min
SYNGAP1 StoriesAshley talks to SRF Co-founder Mike GragliaShow Notes:
Ashley talks with SRF Co-founder and Syngap Dad Mike Graglia. Mike talks about founding SRF with his wife, Ashley Evans & raising a Syngapian child. He offers his best advice to new SYNGAP1 parents.
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Donate: https://www.syngapresearchfund.org/donate/donate#googtrans(en|en)
Mike Graglia: https://www.syngapresearchfund.org/team/mike-graglia
Ashley Evans: https://www.syngapresearchfund.org/team/ashley-evans-mphil-mba-co-founder
Mike & Ashley’s Story: https://youtu.be/lLO2hsAi...2023-02-2126 min
SynGAP10 weekly 10 minute updates on SYNGAP110 Reasons SYNGAP-land is hopeful & exciting today #S10e92Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1 News https://twitter.com/cureSYNGAP1/status/1621293977579442177
Follow her https://twitter.com/navneetkmatharu
And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852
Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team.Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw
Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1
Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaF...2023-02-0815 min
SynGAP10 weekly 10 minute updates on SYNGAP110 Reasons SYNGAP-land is hopeful & exciting today #S10e921. Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1
- News https://twitter.com/cureSYNGAP1/status/1621293977579442177
- Follow her https://twitter.com/navneetkmatharu
- And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852
2. Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team.
- Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw
- Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
- Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1
3. Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com...2023-02-0815 min
SYNGAP1 StoriesOur Host - Ashley Frye tells her family's SYNGAP1 StoryShow Notes:
Host Ashley Frye discusses her family's journey to a SYNGAP1 diagnosis for her son Nathan and living with and caring for a young child with a rare disease.
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Follow Ashley:
Facebook: https://www.facebook.com/ashley.hewettfrye
LinkedIn: https://www.linkedin.com/in/ashley-frye-62095582/
Nathan’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan
Connect with SRF:
Facebook: https://www.facebook.com/cureSYNGAP1
Tw...2023-02-0729 min
SYNGAP1 StoriesTrailerWelcome to Syngap Stories, a podcast dedicated to stories from the Syngap community about living with a rare, untreatable genetic disorder.
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Follow Ashley:
Facebook: https://www.facebook.com/ashley.hewettfrye
LinkedIn: https://www.linkedin.com/in/ashley-frye-62095582/
Connect with SRF:
Facebook: https://www.facebook.com/cureSYNGAP1
Twitter: https://twitter.com/intent/user?screen_name=cureSYNGAP1
Instagram: https://www.instagram.c...2023-01-2401 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap
Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present
PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient
188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/
SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”
NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path
8-8:30 WELCOME AND BREAKFAST - Lauren
8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler
11:00-12:00 REGISTRIES - Invitae, Simons...2022-11-1114 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap
Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present
PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient
188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/
SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”
NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path
8-8:30 WELCOME AND BREAKFAST - Lauren
8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler
11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A
12:00-12:30 LUNCH
12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acad...2022-11-1114 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY!
https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984
https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3
GRANT ALERT
Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873
COMPANY UPDATE
Stoke Tx https://www.stoketherapeutics.com/
Praxis Medicine https://praxismedicines.com/
Rarebase https://www.rarebase.org/
Beacon Biosignals https://beacon.bio/
Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax
Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride
Tevard https://tevard.com/
...2022-10-0509 min
SynGAP10 weekly 10 minute updates on SYNGAP1Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76EVERY PATIENT MATTERS
Lots of work with doctors these days.
e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706
e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344
WE ARE GLOBAL
SRF Site is now in all Languages!
Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72
Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo!
Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/
Netherlands 🇳🇱- We have a Rare-X Platform and everyone s...2022-09-2609 min
SynGAP10 weekly 10 minute updates on SYNGAP1Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76EVERY PATIENT MATTERS
Lots of work with doctors these days.
e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706
e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344
WE ARE GLOBAL
SRF Site is now in all Languages!
Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72
Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo!
Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/
Netherlands 🇳🇱- We have a Rare-X Platform and everyone s...2022-09-2609 min
SynGAP10 weekly 10 minute updates on SYNGAP1We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾💻 Simons & Invitae #S10e75
GLOBAL GENES WAS GREAT
Panel was impressive, will be sharing when recording is live, one point was small molecules…
#GlobalGenes #CareAboutRare
EVENTS ARE COMING
3 weeks!
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
8 weeks!
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
11 weeks!
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
RAREBASE
Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s
We are investing in sm...2022-09-1809 min
SynGAP10 weekly 10 minute updates on SYNGAP1We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾💻 Simons & Invitae #S10e75GLOBAL GENES WAS GREAT
Panel was impressive, will be sharing when recording is live, one point was small molecules…
#GlobalGenes #CareAboutRare
EVENTS ARE COMING
3 weeks!
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
8 weeks!
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
11 weeks!
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
RAREBASE
Talked ab...2022-09-1809 min
SynGAP10 weekly 10 minute updates on SYNGAP1A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e720. SUPPORT OUR PATIENT IN UKRAINE
Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/
Tweet: https://twitter.com/JMGraglia/status/1563362473327005698
1. LONGBOARD PHARMA & RAREBASE
Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY
2. SEIZURE TRACKER
Watch #S10e70 https://youtu.be/g6R9ejJnYbw
More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker
3. WEBINARS
PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae
BEN PROSSER - SEPT 29th at 9 PT http...2022-08-2709 min
SynGAP10 weekly 10 minute updates on SYNGAP1A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e720. SUPPORT OUR PATIENT IN UKRAINE
Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/
Tweet: https://twitter.com/JMGraglia/status/1563362473327005698
1. LONGBOARD PHARMA & RAREBASE
Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY
2. SEIZURE TRACKER
Watch #S10e70 https://youtu.be/g6R9ejJnYbw
More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker
3. WEBINARS
PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae
BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars...2022-08-2709 min
SynGAP10 weekly 10 minute updates on SYNGAP1THE NEXT FOUR MONTHS WILL COME FAST - GET READY! #S10e71THE NEXT FOUR MONTHS WILL COME FAST - GET READY! #S10e71
0. RAREBASE https://www.rarebase.org/
We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s
Now we are doing phase 2… stay tuned.
1. LONGBOARD PHARMA https://www.longboardpharma.com/
STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI)
TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E (Link shared in #S10e67 - https://www.youtube.com/watch?v=dVpl1UEBVXA)
2. SEIZURE TRACKER
Watch #S10e7...2022-08-2411 min
SynGAP10 weekly 10 minute updates on SYNGAP1YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRFREFRESH RECORDS COLLECTION
Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.
SIGN UP FOR TRACKER SURVEY
If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”
The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”
DO IT EVERY DAY FOR 30 DAYS
WATCH THE WEBINAR (Number: 64)
FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/
YT: https://www.syng...2022-08-1210 min
SynGAP10 weekly 10 minute updates on SYNGAP1YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRFREFRESH RECORDS COLLECTION
Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.
SIGN UP FOR TRACKER SURVEY
If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”
The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”
DO IT EVERY DAY FOR 30 DAYS
WATCH THE WEBINAR (Number: 64)
FB: https://www.facebook.com/cureSYNGAP1...2022-08-1210 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why the Bowie grant is so exciting! Our second collaborative grant! #s10e69First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel).
Second grant: Here is the press release and social media on the Bowie grant.
- Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514
- Twitter: https://twitter.com/curesyngap1/status/1552642957546700800
- LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200
- Press Release: https://www.eurekalert.org/news-releases/960181
1. We have LOTS of requests for support, many are good. So you should...2022-07-2910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why the Bowie grant is so exciting! Our second collaborative grant! #s10e69First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel).
Second grant: Here is the press release and social media on the Bowie grant.
- Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514
- Twitter: https://twitter.com/curesyngap1/status/1552642957546700800
- LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200
- Press Release: https://www.eurekalert.org/news-releases/960181
1. We have LOTS of requests for support, many are good...2022-07-2910 min
SynGAP10 weekly 10 minute updates on SYNGAP1This week was ripe with a promising future! #s10e68This week was ripe with a promising future! #s10e68
Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).
Monday
- Invitae Announcement
https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx
- Sign up for Ciitizen: https://syngap.fund/ciitizen
- CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy.
We will co...2022-07-2514 min
SynGAP10 weekly 10 minute updates on SYNGAP1Take time to grieve & then come back to this community to grow. #s10e67COMMUNITY
Two blogs you must read:
- Charlie https://syngap.fund/charlie
- MDBR https://syngap.fund/unite
Vicky is also building community in LatAm, there is a reunion this weekend!
https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w
LEARNING
Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/
- Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o
- Longboard: https://www.youtube.com/watch?v...2022-07-1910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Take time to grieve & then come back to this community to grow. #s10e67COMMUNITY
Two blogs you must read:
- Charlie https://syngap.fund/charlie
- MDBR https://syngap.fund/unite
Vicky is also building community in LatAm, there is a reunion this weekend!
https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w
LEARNING
Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/
- Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o
- Longboard: https://www.youtube.com/watc...2022-07-1910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66
#SyngapCensus for 2q22 is 1098!
https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022
Incidence and Prevalence Article
https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed
GRANT TO COURTNEY LAB - Spread the word
Twitter: https://twitter.com/JMGraglia/status/1544634675808722946
LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/
Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl
Press Release: https://www.eurekalert.org/news-releases/957967
GENETICS
Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation
Protein Truncating:
Nonsense: https://www.genome.gov/genetics-glossary/Nons...2022-07-0609 min
SynGAP10 weekly 10 minute updates on SYNGAP1Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66#SyngapCensus for 2q22 is 1098!
https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022
Incidence and Prevalence Article
https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed
GRANT TO COURTNEY LAB - Spread the word
-Twitter: https://twitter.com/JMGraglia/status/1544634675808722946
-LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/
-Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl
-Press Release: https://www.eurekalert.org/news-releases/957967
GENETICS
Missens...2022-07-0609 min
SynGAP10 weekly 10 minute updates on SYNGAP1We are learning from the best - A read out from #DSFinDFW Conference. #S10e65WEBINARS
- Susan on Fundraising: https://syngap.fund/susan
- Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie
- Sign up! https://www.ciitizen.com/syngap1/
FUNDRAISERS
- SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/
- MICE: Help us Make 2! https://syngap.fund/2mice
DRAVET WAS AMAZING
- Mike’s Tweet-threads about the event
- Day 1 https://twitter.com/JMGraglia/status/1540061343813885952
- Day 2 https://twitter.com/JMGraglia/sta...2022-06-2813 min
SynGAP10 weekly 10 minute updates on SYNGAP1We are learning from the best - A read out from #DSFinDFW Conference. #S10e65WEBINARS
- Susan on Fundraising: https://syngap.fund/susan
- Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie
- Sign up! https://www.ciitizen.com/syngap1/
FUNDRAISERS
- SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/
- MICE: Help us Make 2! https://syngap.fund/2mice
DRAVET WAS AMAZING
- Mike’s Tweet-threads about the event
- Day 1 https://twitter.com/JMGraglia/status/1540061343813885952
- Day 2 https://twitter...2022-06-2813 min
SynGAP10 weekly 10 minute updates on SYNGAP1Throw the doors open, build your team, tell everyone. #S10e64TELL EVERYONE
- New mom chat
- Kali’s article and twitter
- https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6
- https://twitter.com/WorthKali
- Tavillas: https://syngap.fund/susan (6/22/15)
CHECK OUT THIS CONFERENCE: https://syngap.fund/treat
DRUG CO NEWS
- Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html
- Praxis update: At the end, scroll down.
CIITIZEN
- Webinar was awesome https://syngap.fund/virginie
- Sign up! https...2022-06-1412 min
SynGAP10 weekly 10 minute updates on SYNGAP1Throw the doors open, build your team, tell everyone. #S10e64Throw the doors open, build your team, tell everyone. #S10e64
TELL EVERYONE
- New mom chat
- Kali’s article and twitter
- https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6
- https://twitter.com/WorthKali
- Tavillas: https://syngap.fund/susan (6/22/15)
CHECK OUT THIS CONFERENCE: https://syngap.fund/treat
DRUG CO NEWS
- Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html
- Praxis update: At the end, scroll down.
CIITIZEN
- Webinar was awesome https://syngap.fund/virginie
- Sign up! https://www.ciitizen.com/syngap1/
PROBABLY GENETIC IS WORKING!
- Assessment: syngap.fund/maybe - https://sy...2022-06-1412 min
SynGAP10 weekly 10 minute updates on SYNGAP1Are you coming to our conference in December? Some goodies to share with your favorite #RareDad - #S10e63CHECK OUT THIS CONFERENCE: https://syngap.fund/treat
PROBABLY GENETIC IS WORKING!
- Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/
- Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund
- Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST
DON’T MISS OUR NEWSLETTER
- June 2022 https://mailchi.mp/syngapresearchfund.org/june22
- Sign up https://www.syngapresearchfund.org/families/newsletters
- Please make sure we are not going to Spam2022-06-0814 min
SynGAP10 weekly 10 minute updates on SYNGAP1Are you coming to our conference in December? Some goodies to share with your favorite #RareDad - #S10e63CHECK OUT THIS CONFERENCE: https://syngap.fund/treat
PROBABLY GENETIC IS WORKING!
- Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/
- Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund
- Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST
DON’T MISS OUR NEWSLETTER
- June 2022 https://mailchi.mp/syngapresearchfund.org/june22
- Sign up https://www.syngapresearchfund.org/families/newsletters
- Please make sure we are not going to Spam
#FATHERHOOD & RARE
- Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us...2022-06-0814 min
SynGAP10 weekly 10 minute updates on SYNGAP1BONKERS week. #S10e62OUR LEADERS ROCK
- Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors
- Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom
- Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu
- Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap
PROBABLY GENETIC IS WORKING!
- https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap
WEBINARS
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implica...2022-05-2912 min
SynGAP10 weekly 10 minute updates on SYNGAP1BONKERS week. #S10e61OUR LEADERS ROCK
- Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors
- Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom
- Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu
- Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap
PROBABLY GENETIC IS WORKING!
- https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap
WEBINARS
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm E...2022-05-2912 min
SynGAP10 weekly 10 minute updates on SYNGAP1Thank Goodness we have a dynamic team! Some personal news. #S10e61LET’S FIND MORE PATIENTS (of color)
- https://www.syngapresearchfund.org/syngap-warrior/ethan
- https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/
WEBINARS
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST
- Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon ET/5pm BST
FUTURE IS COMING
- We...2022-05-2417 min
SynGAP10 weekly 10 minute updates on SYNGAP1Thank Goodness we have a dynamic team! Some personal news. #S10e61LET’S FIND MORE PATIENTS (of color)
- https://www.syngapresearchfund.org/syngap-warrior/ethan
- https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/
WEBINARS
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST
- Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon...2022-05-2417 min
SynGAP10 weekly 10 minute updates on SYNGAP1Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60PREPRINT
- SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088
- Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2
WEBINARS
- #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm...2022-05-1514 min
SynGAP10 weekly 10 minute updates on SYNGAP1Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60
PREPRINT
- SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088
- Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2
WEBINARS
- #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday...2022-05-1514 min
SynGAP10 weekly 10 minute updates on SYNGAP1We raise funds, make mice & they make preprints! It’s working! #S10e59Congrats to everyone who did #Sprint4Syngap. Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872
WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA
STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack
TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721
GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287
MICE: Help us Make 2! https://syn...2022-05-0913 min
SynGAP10 weekly 10 minute updates on SYNGAP1We raise funds, make mice & they make preprints! It’s working! #S10e59Congrats to everyone who did #Sprint4Syngap. Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872
WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA
STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack
TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721
GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287
MICE: Help us Make 2! https://syngap...2022-05-0913 min
SynGAP10 weekly 10 minute updates on SYNGAP1Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html
Links mentioned
-SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt
-Praxis: https://praxismedicines.com/
-Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html
-RogCon: https://www.rogcon.com/company/#partners
EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/
2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap...2022-05-0213 min
SynGAP10 weekly 10 minute updates on SYNGAP1Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html
Links mentioned
-SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt
-Praxis: https://praxismedicines.com/
-Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html
-RogCon: https://www.rogcon.com/company/#partners
EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/
2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.f...2022-05-0213 min
SynGAP10 weekly 10 minute updates on SYNGAP1Another week in 5th gear, buckle upPost RDD -
Last day of Feb, b/c rarest day
What did we do?
Raised $25k!
Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824
Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644
Jansen and Kimberly were shared, and that is a win for all of us.
https://variantyx.com/2022/02/25/jansens-story/
https://www.raredisease.org.uk/rduk-news/our-syngap1-story/
Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic
Webinar madness!
Two down
https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice
https://www.syngapresearchfund.org/webinars...2022-03-0519 min
SynGAP10 weekly 10 minute updates on SYNGAP1Happy National Caregiver Day! #s10e48Happy National Caregiver Day!
The Data Sharing Panel next week will be epic, don’t miss:
https://syngap.fund/data
Tweet: https://twitter.com/curesyngap1/status/1493282864263090181
Use you ICD Codes! F78.A1 if you want background:
https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1
SRF Case Study here: https://ICDCodeRoadmap.org
Get your EEG Tracings! In EDF format.
Make sure you connect with us to be connected with the community, either on our reg page or on Facebook:
http...2022-02-1910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Happy National Caregiver Day!The Data Sharing Panel next week will be epic, don’t miss:
https://syngap.fund/data
Tweet: https://twitter.com/curesyngap1/status/1493282864263090181
Use you ICD Codes! F78.A1 if you want background:
https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1
SRF Case Study here: https://ICDCodeRoadmap.org
Get your EEG Tracings! In EDF format.
Make sure you connect with us to be connected with the community, either on our reg page or on Facebook:
https://syngap.fund/fb goes to https...2022-02-1910 min
SynGAP10 weekly 10 minute updates on SYNGAP1You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.
HEADLINE: YOU CAN'T DO THIS ALONE, DON’T TRY
-Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows. We cannot do this alone.
PLANNING
One parent just asked how to think about planning for the future, here is what I said.
SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think.
...2022-02-0709 min
SynGAP10 weekly 10 minute updates on SYNGAP1You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.
HEADLINE: YOU CAN”T DO THIS ALONE, DON’T TRY
-Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows. We cannot do this alone.
PLANNING
One parent just asked how to think about planning for the future, here is what I said.
Part of the answer is a simple SNT (special needs trust) and Life Insurance payable to the trust...2022-02-0709 min
SynGAP10 weekly 10 minute updates on SYNGAP1Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.
IT ALL TAKES MONEY
- Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley
- 2nd Annual Sprint for Syngap is coming April 30, 2022.
WEBINARS
- La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion
- An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN
- The use of milk exosomes to incre...2022-01-2910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.
IT ALL TAKES MONEY
- Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley
- 2nd Annual Sprint for Syngap is coming April 30, 2022.
WEBINARS
- La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion
- An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN
- The use of milk exosomes to increa...2022-01-2910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professionalEpisode 37 of #Syngap10 - November 26th, 2021
Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional
- Getting diagnosed with Syngap1 as an adult
- It’s a fact; nonprofits have overhead
- SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf
- SRF is all about transparency syngap.fund/finance
- SRF has 600K out in grants in 2021 syngap.fund/grants
- End of Year Giving
- Shop and donate at Amazon Smile bit.ly/SRF_Smile
- Giv...2021-11-2709 min
SynGAP10 weekly 10 minute updates on SYNGAP1Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professionalSupport SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional
- Getting diagnosed with Syngap1 as an adult
- It’s a fact; nonprofits have overhead
- SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf
- SRF is all about transparency syngap.fund/finance
- SRF has 600K out in grants in 2021 syngap.fund/grants
- End of Year Giving
- Shop and donate at Amazon Smile bit.ly/SRF_Smile
- GivingTuesday Nov 30 syngap.fund/gt21
- End o...2021-11-2709 min
SynGAP10 weekly 10 minute updates on SYNGAP1Grateful for the incredible SRF team/family...Top 5:
10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/
https://syngap.fund/gt21
https://syngap.fund/rt3
Studies:
ORCA - Full
FRAZIER - email Corey@syngapresearchfund.org
SIGN UP ALL ONLINE https://syngap.fund/adults and email Lauren@syngapresearchfund.org
Old Guard:
Aaron, Olga, Rebecca,
Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo!
Marta, Vicky, Peter, Kali, Summer
Pavel, Nancy, Sydney
Tavillas
Lauren Perry
New wave of leaders:
Alexis https://syngap.fund/naya
Corey Baysden
Jen & Dan Robert
Suzanne Jones
Caitlin Kasper
Ashley Frye
GET...2021-11-2009 min
SynGAP10 weekly 10 minute updates on SYNGAP1Our kids will live long lives and do beautiful things, let’s make sure we help them as much as possible.Episode 35 of #Syngap10 - November 12th, 2021
HOLIDAY GIFTS - GET SRF #MERCH
5 days left to order Hoodies, T-shirts, other gear:
- https://syngap.fund/LHC or https://syngap.fund/BKC
- Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP
FOUR STUDIES are enrolling now/soon:
- Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc
- Dr. Frazier - Reach out to info@syngapresearchfund.org to participate. H...2021-11-1209 min
SynGAP10 weekly 10 minute updates on SYNGAP1Our kids will live long lives and do beautiful things, let’s make sure we help them as much as possible.Episode 35 of #Syngap10 - November 12th, 2021
HOLIDAY GIFTS - GET SRF #MERCH
5 days left to order Hoodies, T-shirts, other gear:
- https://syngap.fund/LHC or https://syngap.fund/BKC
- Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP
FOUR STUDIES are enrolling now/soon:
- Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc
- Dr. Frazier - Reach out to info@syngapresearchfund.org to par...2021-11-1209 min
SynGAP10 weekly 10 minute updates on SYNGAP1Multiple studies enrolling now, start with Ciitizen and keep going...Episode 34 of #Syngap10 - November 5th, 2021
- 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3
- We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1
-Three more studies are enrolling now/soon:
-Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc
- Dr. Frazier - Reach out to info@syngapresearchfund.org to participate. Here is the webinar. h...2021-11-0510 min
SynGAP10 weekly 10 minute updates on SYNGAP1Multiple studies enrolling now, start with Ciitizen and keep going...Episode 34 of #Syngap10 - November 5th, 2021
- 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3
- We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1
-Three more studies are enrolling now/soon:
-Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc
- Dr. Frazier - Reach out to info@syngapresearchfund.org to participate. Here is the web...2021-11-0510 min
SynGAP10 weekly 10 minute updates on SYNGAP1Gala. Webinar. Crypto SunBlocks. ICD 10 AND 11. Thank you. Sign up for Ciitizen by 11/15/21.Happenings
Tomorrow is the GALA https://syngap.fund/gala
In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc
NOW (Crypto Art Auction) https://syngap.fund/sungap
ICDs & Medical Care
- Corey ICD-10 issue https://syngap.fund/F78A1
- ICD-11 is happening too! Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help
- Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors
Thank yous
- Thank you to Ashley and Forbes for g...2021-10-2310 min
SynGAP10 weekly 10 minute updates on SYNGAP1Gala. Webinar. Crypto SunBlocks. ICD 10 AND 11. Thank you. Sign up for Ciitizen by 11/15/21.Happenings
Tomorrow is the GALA https://syngap.fund/gala
In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc
NOW (Crypto Art Auction) https://syngap.fund/sungap
ICDs & Medical Care
- Corey ICD-10 issue https://syngap.fund/F78A1
- ICD-11 is happening too! Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help
- Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors
Thank yous
- Thank you to Ashley and For...2021-10-2310 min
SynGAP10 weekly 10 minute updates on SYNGAP1Episode 31 of #Syngap10 - October 15th, 2021Coming in hot! BCH Grant putting Ciitizen to work & the Gala is next week!
Episode 31 of #Syngap10 - October 15th, 2021
- We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital
- Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1
- Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure
- Consider donating to o...2021-10-1510 min
SynGAP10 weekly 10 minute updates on SYNGAP1Coming in hot! BCH Grant putting Ciitizen to work & the Gala is next week!Episode 31 of #Syngap10 - October 15th, 2021
- We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital
- Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1
- Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure
- Consider donating to our fundraiser for RareBase syngap.fund/RB.
- Oct. 23rd is the gala & auction in NJ...2021-10-1510 min
SynGAP10 weekly 10 minute updates on SYNGAP1F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! - Episode 29 of #Syngap10 - October 1st, 2021 with guest host, Ashley Frye- Go see the SRF TikTok account: syngap.fund/tiktok.
- Find us everywhere at our handle @curesyngap1.
- It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1
- Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure.
- Consider donating to our fundraiser for RareBase syngap.fund/RB.
- #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census.
- Medical Considerations...2021-10-0109 min
SynGAP10 weekly 10 minute updates on SYNGAP1F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! Guest host, Ashley Frye- Go see the SRF TikTok account: syngap.fund/tiktok.
- Find us everywhere at our handle @curesyngap1.
- It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1
- Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure.
- Consider donating to our fundraiser for RareBase syngap.fund/RB.
- #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census.
- Medical Considerations Gui...2021-10-0109 min
SynGAP10 weekly 10 minute updates on SYNGAP1Keep growing our community, we need each other - Episode 28 of #Syngap10 - September 24th, 2021- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone.
- Big thought: Complex Population, about to get more complex, "Post-Intervention"
- Sign up for Ciitizen: https://www.ciitizen.com/syngap1/
- Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/
- Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/
- Simons Searchlight in Spanish, English is...2021-09-2410 min
SynGAP10 weekly 10 minute updates on SYNGAP1Keep growing our community, we need each other!- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone.
- Big thought: Complex Population, about to get more complex, "Post-Intervention"
- Sign up for Ciitizen: https://www.ciitizen.com/syngap1/
- Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/
- Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/
- Simons Searchlight in Spanish, English is sti...2021-09-2410 min
SynGAP10 weekly 10 minute updates on SYNGAP1The future is coming, let’s build it! - Episode 26#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it!
A wonderful letter from a parent “on an island” that reminded us of the https://Syngap.fund/lens with http://joashline.com/ made my week.
Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha
First principles, we are here to change the future and help each other.
The future is coming: Invitae & Ciitizen
Read this FAQ https://www.ciitizen.com/announcement/
Sign up for Ciitizen https://ciitizen.com/syngap1
We ma...2021-09-1010 min
SynGAP10 weekly 10 minute updates on SYNGAP1The future is coming, let’s build it!#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it!
A wonderful letter from a parent “on an island” that reminded us of the https://Syngap.fund/lens with http://joashline.com/ made my week.
Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha
First principles, we are here to change the future and help each other.
The future is coming: Invitae & Ciitizen
Read this FAQ https://www.ciitizen.com/announcement/
Sign up for Ciitizen https://ciitizen.com/syngap1
We make...2021-09-1010 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right?
https://Syngap.Fund/CTR - $26k and growing.
Birthday Fundraisers, $25 per $250, we will find and thank you!
https://Syngap.Fund/blog - Make sure to read the latest on variants
Events: Webinar & Meetups
https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific.
San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group.
Beach Haven, NJ Meetup - August 1st 11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts.
121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina. Great work.
We ar...2021-07-1010 min
SynGAP10 weekly 10 minute updates on SYNGAP1”Seizures, Communication, Behavior, Sleep, Other” Is that right? - Episode 18 of #Syngap10 - July 9th, 2021#SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right?
https://Syngap.Fund/CTR - $26k and growing.
Birthday Fundraisers, $25 per $250, we will find and thank you!
https://Syngap.Fund/blog - Make sure to read the latest on variants
Events: Webinar & Meetups
https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific.
San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group.
Beach Haven, NJ Meetup - August 1st 11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts.
121 Warriors - https://syngap.fund/wa...2021-07-1010 min
SynGAP10 weekly 10 minute updates on SYNGAP1SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast
We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments
Join the largest SYNGAP1 study on earth https://syngap.fund/nhs
Learn more at https://syngap.fund/rarex
Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars
- https://syngap.fund/aten Thurs June 10th @ 10 PST
- https://syngap.fund/drtf Sat July 17th @ 9 PST
- Learn more at https://syngap.fund/Fr...2021-05-2910 min
SynGAP10 weekly 10 minute updates on SYNGAP1IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB! - Episode 12 of #Syngap10 - May 28th, 2021SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!
Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast
We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments
Join the largest SYNGAP1 study on earth https://syngap.fund/nhs
Learn more at https://syngap.fund/rarex
Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars
- https://syngap.fund/aten Thurs June 10th @ 10 PST
- https://sy...2021-05-2910 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 5 - 9 April 2021 - EEG Biomarkers, SSB Study, Ciitizen, CNF Survey, Sprint4Syngap
Biomarker EEG work - very exciting
IPSCs - Prime editing, Base editing, tRNA etc. Based on Ciitizen data!
SSB30 Webinar! Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior
Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO. Sign up now: Ciitizen.com/SYNGAP1
CNF Caregiver survey, due April 23rd. https://syngap.fund/cnf
Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand
Sprint! Bakers dozen 13 groups over $1k! 62K+ https://syngap.fund/sprint
Reminders: Enzo 8, Brazil, was our Warrior this week. http://syngap.fund/warriors
Also two webi...2021-04-1010 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 2 - 19 March 2021 - Mike updates Syngap Families on the work of SRF.Check out the Eat. Sleep. Cure. Mug, love it!
#Sprint4Syngap is going well, thanks to leading families and teams.
Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx
Sign up for Ciitizen.com/SYNGAP1
Cell lines and biobanks.
E4 sensors to researchers!
CNF profiles our support group.
Getting the next board together.
Praxis earnings call
Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/
SRF joins the American Brain Coalition.
...2021-03-2009 min
SynGAP10 weekly 10 minute updates on SYNGAP1Mike updates Syngap Families on the work of SRF. - Episode 2 of #Syngap10 - March 19th, 2021Check out the Eat. Sleep. Cure. Mug, love it!
#Sprint4Syngap is going well, thanks to leading families and teams.
Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx
Sign up for Ciitizen.com/SYNGAP1
Cell lines and biobanks.
E4 sensors to researchers!
CNF profiles our support group.
Getting the next board together.
Praxis earnings call
Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/
SRF joins the American Brain Coalition.
All in 10 minutes!
2021-03-1909 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 1 - 12 March 2021 - Mike Graglia updates Syngap Families on the work of SRF.Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families.
- Engaged with a new BioPharma company interested in starting a program on SYNGAP1.
- Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible.
- How to sign up for CIITIZEN.com/SYNGAP1
- How #Sprint4Syngap is going
- A preview of some work we are doing on drug discovery w...2021-03-1309 min
SynGAP10 weekly 10 minute updates on SYNGAP1Mike Graglia updates Syngap Families on the work of SRF. - Episode 1 of #Syngap10 - March 12th, 2021Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families.
- Engaged with a new BioPharma company interested in starting a program on SYNGAP1.
- Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible.
- How to sign up for CIITIZEN.com/SYNGAP1
- How #Sprint4Syngap is going
- A preview of some work we are doing on drug discovery w...2021-03-1309 min