Shows
SynGAP10 weekly 10 minute updates on SYNGAP1UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150📝Full show notes: https://curesyngap1.org/podcasts/syngap10/
FRAZIER STUDY
https://Syngap.Fund/Eye2 khuba@jcu.edu
Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914
SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing
We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/
Chronic Grief
Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/
Short: https://www.youtube.com/wat...2024-09-2522 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 SYNGAP11,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144📝Full show notes: https://syngap.fund/n144
CENSUS = 1,454
https://curesyngap1.org/how-many-people-have-syngap1-census/
STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024
FUNDRAISING
Missense Account of the Fund
https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYEExplainer - https://www.youtube.com/watch?v=C9bGOA2MFHc
Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
Emmy
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research
YOU?
https://curesyngap1.org/blog/fundraising-the-backbone-of-research/
2024-07-0322 min
SynGAP10 weekly 10 minute updates on SYNGAP1SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141JOIN SRF LT on Thursday:
Volunteer Info session with Leadership Team is this week:
https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.
MDBR is 3 weeks away! https://Syngap.Fund/Unite
$5k match https://x.com/phalliburton/status/1792288377049415835
It’s all about therapies. Precision Genetic and Repurposed.
Conferences are where we engage professional communities around SYNGAP1 & SRF.
- Last week I was at Milken Global. All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program
...2024-05-2023 min
SynGAP10 weekly 10 minute updates on SYNGAP1SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)
SRF is the same:
- Raise Funds to Change the Future
- Volunteer, contribute to a larger effort
- Connect with other families
- Share our experience to make broader knowledge
- Learn from each other and scientists
Raise Funds
#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ
- Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd
2024-04-2417 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
SynGAP10 weekly 10 minute updates on SYNGAP1Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132TWO Gene therapy INDs approved in the past week!
JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/
ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/
Mike’s Gene Therapy Cheat Sheet
https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing
TAKE THE ROCHESTER SURVEY
https://redcap.link/NDDCaregiverSurvey
SPRINT FOR SYNGAP24 is on!
https://Syngap.Fund/Sprint24
APARITO ANNOUNCEMENT
LI - https...2024-02-0715 min
Once Upon A GeneThe Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike GragliaONCE UPON A GENE - EPISODE 211The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike GragliaRare disease parents and front line advocates, Kim Nye and Mike Graglia, join this episode for a discussion about the unseen struggles of rare disease parenthood and the delicate balance of operating an advocacy organization. EPISODE HIGHLIGHTSKim, can you share your perspective on how much work it is to lead an advocacy organization and the impact it has...2023-12-1449 min
SynGAP10 weekly 10 minute updates on SYNGAP1Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
Sti...2023-09-1912 min
SYNGAP1 StoriesMike Graglia, SRF Managing Dir. & SYNGAP1 Dad to Tony. Going back to school can be difficult. Tony's experience shows that it's so much harder for kids with SYNGAP1!Show Notes
Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure...2023-08-3051 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 SYNGAP1This is the ENDD of excuses. Sign up for the CHOP ENDD Study - #S10e105Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
This is the ENDD of excuses. Sign up for the CHOP ENDD Study.
There is so much work to do, volunteer Info@SyngapResearchFund.org ...2023-05-1915 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 SYNGAP1All About #Sprint4Syngap 2023! #S10e103Grand Total: $241,359 – Incredible! Congratulations to all the teams.
In-Person Events:
Team Tavilla raised $162,464…and counting
Hope for Hadley raised $10,059… and counting
Team Syngap America Latina raised over $2,000
Canada - Team Mya raised over $2800 & Team Chase raised over $2300
Team Andrew raised over $3,200
Team Emma Mae raised over $3,000
Team Kai raised over $2,600
Team Gracyn raised $1,864
Team Naya raised $1,795
Team Patrick raised $1,240
Kilometers4Kai raised $952
March4McKaela raised $550
Online Fundraisers:
Phoebe’s fight’s total i...2023-05-0410 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 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
SynGAP10 weekly 10 minute updates on SYNGAP1💯Episode 100! Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!! #S10e100How is the podcast doing?
- Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k
- Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!
What you can do this week?
- Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group.
- Tell me if you have any GI biopsies planned.
- Plan your travel
- Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62...2023-04-0913 min
SynGAP10 weekly 10 minute updates on SYNGAP1🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, Combined Brain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99Watch the COMMBINEDbrain / TJB Webinar!
https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1
Frogs are cool
https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/
#SYNGAPcensus is at 1,251
https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023
SYNGAP is HOT
https://www.youtube.com/watch?v=X4iDyHc4xUA
#Sprint4Syngap - 28 days, April 29, 2023
- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
- Fun...2023-04-0114 min
SynGAP10 weekly 10 minute updates on SYNGAP1Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98Milken Fastercures RPMM
- So much strong work and thinking here!
https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM
- Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi
- Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20
Why we need a house?
www.fpwr.org - www.jdrf.org - www.runx1-fpd.org
Press is key! Congrats to Peggy
https://www.newsa...2023-03-2412 min
SynGAP10 weekly 10 minute updates on SYNGAP1Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report - #S10e97Community with families
- Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl
- Hattie and Tony at the pool with the Fosters
- Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/
- Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/
- 2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/
- Throw them in occasionally.
Talking to 2 year olds
- LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1
- You are fortunate to know.
...2023-03-1716 min
SynGAP10 weekly 10 minute updates on SYNGAP1Rare Disease Day 2023 was epic and you should have been there. Sprint and Webinar update. #S10e96RD Advocacy with Everylife Foundation was Epic.
- https://everylifefoundation.org/rare-advocates/rare-disease-week/
- Join us next year! Be in cool pictures like this
- https://twitter.com/rareadvocates/status/1631421473842667520
- https://twitter.com/RareAdvocates/status/1631038634936741890
- Here were our asks:
- https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf
- https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf
- https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf
- https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf
#Sprint4Syngap
- https://syngap.fund/sprint
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 18 Teams! Fourteen are already...2023-03-0713 min
SynGAP10 weekly 10 minute updates on SYNGAP1Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95It’s RARE DISEASE DAY! Hattie has a new video!
https://www.syngapresearchfund.org/families/movies
I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation
- https://ncats.nih.gov/news/events/rdd
- https://everylifefoundation.org/rare-advocates/rare-disease-week/
We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
Deadline for Grants is 3/1
- https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 15 Teams! Eight already raising funds: Team...2023-02-2818 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
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 SYNGAP1More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93-Beacon - EEGs are critical for us. https://beacon.bio/
-Diagnosis: Heather
- Survey: https://syngap.fund/maybe
- Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1
- https://sparkforautism.org/
- #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE
- OUAG - Testing Poem -
Roses are red, Violets are blue
You gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261
-Rare Disease Swarm - So many genes, moving so...2023-02-1420 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
SynGAP10 weekly 10 minute updates on SYNGAP1Why we need to keep talking about SYNGAP1 #S10e91Why we need to keep talking about SYNGAP1 #S10e91
Press is good!
- Short link: https://syngap.fund/nw
- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362
Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf
Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science D...2023-02-0109 min
SynGAP10 weekly 10 minute updates on SYNGAP1New Grant, Rare Affair, SYNGAP1 research and events #S10e88NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK
LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568
Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl
Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences
#RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
https://www.linkedin.com/in/allyson-berent-36621523/
Saving Ryan -
#BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED
https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL
GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU
https://www...2023-01-1012 min
SynGAP10 weekly 10 minute updates on SYNGAP1SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87SRF BY THE NUMBERS IN 2022
Twitter https://twitter.com/JMGraglia/status/1610633778015383552
Source https://www.syngapresearchfund.org/post/srf-2022-the-year-in-review-by-the-numbers
GREAT PRESS
Diagnosis of a 40 year old #SYNGAPian
Twitter https://twitter.com/cureSYNGAP1/status/1610656947447169025
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZdHyTUHUrnFXU5D11JNJBew3Nkl
LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016425793358626816
Inside Precision Medicine Profile
Twitter https://twitter.com/cureSYNGAP1/status/1610793389544570882
Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02xVVu69w4bAMA8kPe7kcAVg6HkvVrMcsEmBmMM56wxWCu7VbUHpAunr5YgNMPVwgrl
Linkedin https://www.linkedin.com/posts/curesyngap1_rare-parents-tackling-rare-diseases-activity-7016560489325375488-prUZ
DNAtoday Podcast
LinkedIn https://www...2023-01-0512 min
DNA Today: A Genetics Podcast#217 SynGAP1 with Mike Graglia and Elli BrimblePatient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene.
Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World...2022-12-3036 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAPconf22 was a hit, join us in 2023… #S10e86PREREGISTER FOR NEXT YEAR
https://twitter.com/cureSYNGAP1/status/1608462863819067397
https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform
Buy this book on Amazon or on JR’s website - #MoreOfEverthing by JR
https://janiereade.com/
https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL
JACKIE KANCIR STORY
https://www.facebook.com/cureSYNGAP1/posts/pfbid0gTTnF77VdbTirweTyKqKxHzDkNz66jUxxnvwMzjUxzwzFU1Q1U4HYrDywFMoBeAkl
https://twitter.com/cureSYNGAP1/status/1608216895240671232?s=20&t=INvuB36y5oJM-bL_RKtscg
https://www.linkedin.com/fe...2022-12-2915 min
SynGAP10 weekly 10 minute updates on SYNGAP1#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85Dr. Grinspan on AES
https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan
Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022
Dr. Dennis Lal on AES & Genetics
https://twitter.com/LalDennis/status/1600617199110070286
Mike’s Talk at AES
https://twitter.com/LouisTDang/status/1598753675714887684
https://twitter.com/IDreamofGenes/status/1598753872172191745
https://twitter.com/john_oldenhof/status/1598756993073717249
CAMP4 Poster by Ali Al Abdullatif, MsC
https://twitter.com/camp4tx/status/1601222388317917186
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 he...2022-12-2911 min
SynGAP10 weekly 10 minute updates on SYNGAP1Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82ATLANTA was an incredible event and a success for more reasons than you think
- Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY
- Family connection is everything
- Raised funds from Atlanta community, it’s us folks.
Real but not True: https://www.psychologytoday.com/us/blog/finding-true-refuge/201702/real-not-true
BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/
You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th.
Send Summer a photo: Su...2022-11-1410 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 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 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
Dad to Dad PodcastDad to Dad 204 - Mike Graglia of Palo Alto, CA Father of Two & Co-Founder Of The SynGAP Research FundOur guest this week is Mike Graglia of Palo Alto, CA. Mike and his wife, Ashley, are parents to two boys John (3) and Tony (8) who was diagnosed with SynGap 1, a rare genetic disorder. We’ll learn about Mike's eclectic career including being a Peace Corps volunteer in Namibia, as well as working at: the World Bank, Boston Consulting Group, the Bill & Melinda Gates Foundation, Hewlett Packard Enterprise, New America, and Emerson Collective before jumping in full-time at the SynGAP Research Fund in a quest to find treatments and a cure for those who diagnosed with SynGap1. It...2022-06-0359 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 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 SYNGAP1Why will companies work on #SYNGAP1? #S10e56First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200! Sign up now at https: www.ciitizen.com/SYNGAP1
Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org ;-)
We do cool things like get ICD-10 codes. I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1
Third, because they believe they will find more patients and we be...2022-04-1910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Happy Epilepsy Awareness Day! #S10E53Three events to plan on:
Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw
Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg
2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022
Here are the dates to think about for the rest of the year: https://docs.google.com/spreadsheets/d/18R8PcD5aM_HTgYJLgkzAbmzIbD5KZdF2eDP7f3...2022-03-2510 min
SynGAP10 weekly 10 minute updates on SYNGAP1We are starting to find lots of adult patients, what now?SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk
SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments
Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1
2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://pod...2022-03-2112 min
SynGAP10 weekly 10 minute updates on SYNGAP1Putting this work in perspective…Mike takes a break from all the updates to put things in perspective. This work is critical.
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 51 of #Syngap10 - March 14, 2022
#s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology2022-03-1511 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 SYNGAP1Rare Disease Day is Monday! And here at SRF we can feel it all happening…COOL START TO THE DAY
https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA
Grief in convo with Kali about Rare Disease Diagnosis.
NEWS
We dropped the Zempleni Presser! How cool is this? Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729
Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni
More is coming soon. We have a few press releases in the hopper! One just made...2022-02-2510 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 SYNGAP1It’s all coming together - data, trials, research. Time is now to join in! The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet
Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/ Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1
2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!
- Sign up now: https://syngap.fund/sprint2022
- Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/
Reminders:
- Great web...2022-02-1511 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 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 SYNGAP1Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext
Here is the quote Mike read:
“It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients.
The future of child neurology is bright—indeed, far more promising than at the turn of the 21st centur...2022-01-2720 min
SynGAP10 weekly 10 minute updates on SYNGAP1Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/
FIVE KEY LINKS
- Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference
- AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf
- STOKE Patent https://patents.google.com/patent/WO2017106377A1/en
- #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner
- Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1
SPREAD THE WORD
Twi...2022-01-1514 min
SynGAP10 weekly 10 minute updates on SYNGAP1How to tell your family about SYNGAP1How to tell your family about SYNGAP1
As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family? How?
When? As soon as you can!
How, well that’s what we talk about today:
This is a big deal, let’s not minimize it.
I need you help
Learn with me
Fight insurance with me
Help me rearrange my life
Help with my SYNGAPian or their siblings
Jump into my life, don’t give me space
Raise funds with me to help bring therapies and cure closer to reality
2022-01-0709 min
SynGAP10 weekly 10 minute updates on SYNGAP12021 by the numbers, 985 patients counted, exciting work ahead!2021 by the numbers, 985 patients counted, exciting work ahead!
- Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers
- The #SyngapCensus is at 985! https://syngap.fund/census
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US!
- Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a
Episode 41 of #Syngap10 - December 31, 2021
#phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #in...2021-12-3111 min
SynGAP10 weekly 10 minute updates on SYNGAP1Let’s catch the Genetic Therapy Tsunami for SYNGAP1!Let’s catch the Genetic Therapy Tsunami for SYNGAP1!
Episode 40 of #Syngap10 - December 17, 2021
- Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150!
- Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL
- ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
...2021-12-1809 min
SynGAP10 weekly 10 minute updates on SYNGAP1This is Real Life! Science is moving forward and we are on boardEpisode 39 of #Syngap10 - December 10, 2021
- Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1
- Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner
- Syngap merch https://www.syngapresearchfund.org/shop
- SRF’s Blog https://www.syngapresearchfund.org/blog
- Fundraise https://syngap.fund/give
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
- Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10
#TalentTuesday #volunteer #Syn...2021-12-1110 min
SynGAP10 weekly 10 minute updates on SYNGAP1Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.
Episode 38 of #Syngap10 - December 4th, 2021
Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers.
The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021
Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1
Raise funds for SYNGAP1
- Facebook Fundraisers: http://syngap.fund/FBFun
- Giving Tuesday Fundraiser: https://syngap.fund/gt21
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
- Sign up for...2021-12-0409 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 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 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
CausepodsFinding Purpose with Mike Graglia of the SYNGAP10 PodcastPurpose can come from anywhere.We often think of purpose as something that comes from something you love, but more often than not, purpose comes from the hard things in life. For example, today we are talking with Mike Graglia, who found a purpose through the struggle of being a child's parent with SYNGAP1. A rare disease where a specific protein is not created that is essential for nerve growth. It is so rare that it wasn't recognized in humans until 2009. Mike knew that information would be the key to advancing his and the medical com...2021-11-0122 min
SynGAP10 weekly 10 minute updates on SYNGAP1Gather and connect. Learn from those who have come before. Keep hope alive!Episode 33 of #Syngap10 - October 29th, 2021
Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala
Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity.
https://www.uhnresearch.ca/researcher/danielle-andrade
Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants
Support SRF - syngap.fund/give
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
Sign up for this 10 minute #podcast #SYNGAP10 her...2021-10-3009 min
Progress, Potential, and Possibilities Podcast / ShowMike Graglia, Managing Director & Co-Founder, SynGAP Research Fund - Collaboration, Transparency, UrgencySend us a textMike Graglia is the Managing Director & Co-Founder of the SynGAP Research Fund (SRF - https://www.syngapresearchfund.org/), an organization that he set up in 2018 with his wife Ashley, after their son was diagnosed with a rare neurological disease caused by an insufficiency in SynGAP protein, which causes the life-changing diagnoses of Epilepsy, Autism, sleep disorder and intellectual disability. The mission of SRF is to improve the quality of life of SynGAP1 patients through the research and development of treatments, therapies and support systems. Previously, Mike worked at the Emerson Collective, New America...2021-10-2650 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 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 SYNGAP1Inspiring your community and raising awareness for SYNGAP1 - Episode 30 of #Syngap10 - October 8th, 2021- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb
- Family fundraiser: syngap.fund/jansen
- Consider donating to our fundraiser for RareBase. syngap.fund/rb
- SYNGAP1 Patient Voice Publication. syngap.fund/pvp
#F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics2021-10-0910 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 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 SYNGAP1Rarebase explained and who is going to win the race, we don‘t care - Episode 27 of #Syngap10 - September 17th, 2021
Rarebase (explained) and also, they helped us find another another family. Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase
Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure
Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE
Company conversations: Q-State Pipeline
Reminder, we are here to clear the path for whomever wins, we don't c...2021-09-1810 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 SYNGAP1#SYNGAP10 - Ep. 25 - September 3rd, 2021 - Hope is the smartest move-That incredible webinar https://Syngap.fund/ana was a source of hope!
-The newsletter came out yesterday; it’s really good: https://syngap.fund/sept
-Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1
-Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR
-Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10
-What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
#F78A1 #ICD10 #Syn...2021-09-0309 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Ep. 24 - August 27th, 2021 - Two conversations with the same conclusion...#SYNGAP10 - Episode 24 - August 27th, 2021 - Two conversations with the same conclusion...
Next Webinar: https://Syngap.fund/ana Sept 2 at 10 am. PST
Two conversations with the same conclusion, sign up for Ciitizen https://ciitizen.com/syngap1
Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR
Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10
What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics2021-08-2809 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Ep. 23 - Telling our story and why it mattersEduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon. Remember to register for Ana in September https://Syngap.Fund/Ana
SYNGAP1 is on the Compassionate Access List (CAL) for the SSA. This just happened and it's due to the work of one of our families, thank you! https://Syngap.Fund/SSA
Great scientist conversations this week.
New researcher looking into SYNGAP1, connecting with local families
Rockstars reviewing a multi-gene grant
One senior scientist called to say he's got Fish and we should let people know.
Stories I w...2021-08-2110 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Episode 22 - August 13th, 2021 - Webinars, mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR- Webinars
-https://Syngap.fund/eduardo August 19 at 10 am PST
-https://Syngap.fund/ana Sept 2 at 10 am PST
- Mugs mugs mugs
-https://twitter.com/AAledo/status/1426207246149636099
- Blog: Genetics article is a must read for new families
- https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1
- Genetic Counselors
- Tell me about your experience
- What do they need to know?
- Hug them
- Ciitizen
- Count 110 + 12, let's keep going, 28 spots left!
...2021-08-1614 min
Once Upon A GeneThe 12 Commandments to guide you when you're starting a rare disease patient advocacy group - With Nasha Fitter and Mike GragliaONCE UPON A GENE - EPISODE 094With The Mike and Nasha Part IIFOXG1 advocate Nasha Fitter and SYNGAP1 advocate Mike Graglia are leaders in the rare disease community and two of the top parent leaders in the advocacy game. In this episode, they're sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure. EPISODE HIGHLIGHTSWhere do you start?The f...2021-08-0548 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything!#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything!
-Thank you for all the connections this week!
-San Diego with the Harding Family
-https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359
-New Jersey with Nancy Lieb Kessler
-https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/
-Ashley in Boston
-https://twitter.com/SYNGAP1mom/status/1420457356836495360
-Juan and Vicky did a wonderful video!
-https://www.youtube.com/watch?v=T_W_3IuJCrI
-https://fb.watch/78guUyW3pp/
-Support our current effort at https://syngap.fund/CTR
2021-08-0310 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Episode 20 - July 23, 2021 - - Great things afoot! Join us.Thank you to you know who you are, & welcome to three new families this week!
https://syngap.fund/CTR is happening, worked on data this week
https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3!
Next grant on drug discovery is already in the works
A few announcements
Wed July 28 - San Diego, see you next week
Sunday August 1 - Gathering in Jersey
Tuesday August 24 - UC Davis meet the researchers
Interested in getting a service dog? https://www.meridusk9.com/
Make sure you track us on social...2021-07-2409 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Ep. 19 - Let’s @cureSYNGAP1-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms
-Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1
-Still fundraising for https://syngap.fund/ctr
-All social media is now on @cureSYNGAP1
-https://Facebook.com/cureSYNGAP1
-https://Twitter.com/cureSYNGAP1
-https://Linkedin.com/company/curesyngap1
-https://Instagram.com/curesyngap1
-https://Tiktok.com/@curesyngap1
-https://YouTube.com/c/@cureSYNGAP1
-Yep, we said it, and we mean it.
-Subscribe to this podcast at https://syng2021-07-1610 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#SYNGAP10 - Episode 17 - 2 July 2021 - Let’s get to work for these 808 kids!#SYNGAP10 - Episode 17 - 2 July 2021
- Thanks for listening, now please share!
- Newsletter: https://Syngap.Fund/July
- Census: https://Syngap.Fund/Census Honestly, it’s low. Remember Covid.
- Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients
- Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf
- Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years.
- July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for p...2021-07-0310 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Episode 16 - 25 June 2021 - Put your mask on first.#SYNGAP10 - Episode 16 - 25 June 2021
REMINDER - Put your own mask on first.
THANKS - #syngapLOVE photos were great, check out our header image
THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718
GIVE - https://Syngap.Fund/CTR - We need to raise some money folks!
WORK - Fundraisers are getting real, need to organize some events, email Peter@syngapresearchfund.org
PROGRESS - Ciitizens got gift cards! Yeah, sign up now. Ciitizen.com/SYNGAP1
STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. http...2021-06-2610 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Ep. 15 - 18 July 2021 - Splash & #SYNGAPlove in 3 days, DSC & BCH Grants, more ICD attention!#SPLASH4SYNGAP is on MONDAY.
3 days until June 21st!
Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
Use hashtag #SYNGAPlove & #Splash4SYNGAP
DSC & BCH - It’s go time! Let’s raise some funds. Read the blogs
Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development
Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development
ICD-10
EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Dravet Business Cards. Copying is great! Copy us.
ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyears...2021-06-1810 min
SynGAP10 weekly 10 minute updates on SYNGAP1#SYNGAP10 - Ep. 14 - 11 June 2021 - Community and #SYNGAPlove- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove
COMMUNITY
- I don’t want the questions. It’s hard to go out in public, our kids are so damn cute.
- Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease
BLOGS
- Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1
- SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippo...2021-06-1210 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 13 - The things we do for LOVE!Birthday Fundraiser was a great success! https://syngap.fund/m46
Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM
ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
Learn more at SyngapResearchFund.org2021-06-0410 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 SYNGAP1SYNGAP10 - Ep. 11 - May 21st, 2021 - We must be hopeful. And it makes sense to be so.
Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382
Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981?s=21
Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine
My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/
List of things you can do for SRF: https://Syngap.fund/clicks
Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs
Learn more at https://SyngapResearchFund.org
2021-05-2210 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSCSYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC
Validated Scales
- Congrats to the ORCA Team at Duke https://syngap.fund/orca
- Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars
Grand parents article https://syngap.fund/grand
- Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1
- Join the Group there is a link in the article - Peer connection is so key
Ciitizen
- US sign ups continue! Every patient matters/. https://www.ciitizen.com/s...2021-05-1410 min
SynGAP10 weekly 10 minute updates on SYNGAP1SynGAP10 - Ep. 9 - 7 May 2021 - Adults, New parents, ABA, Missense and MoneyIn this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed.
Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts
Reflections on conversation with parents, especially the parents of Adult SynGAPians.
We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars
Next week we will have a great webinar wit...2021-05-0810 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 8 - BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngapThis episode is an absolute must. Don't miss it.
- Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today:
🔗 https://Syngap.Fund/ST
- If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/
- 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal.
Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-so...2021-04-3010 min
SynGAP10 weekly 10 minute updates on SYNGAP1#Syngap10 - Episode 7 - 23 April 2021Syngap.Fund/Sprint
We have raised $104k, so far! Look for the #sprint4syngap tomorrow!
Thanks to Henry Anderson of the Pats for a shoutout!
The fund will go to an upcoming grant at BCH
EEG Biomarker work
Analysis of Ciitizen data into a study
Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST
We had meetings with CB, PMC, ELCC & REN this week.
Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs
Reach out to us if you want t...2021-04-2310 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep. 6 - 16 April 2021 - Newsletter, SSB, Ciitizen growth, Frazier, Sprint, ICD-10 & you are not alone.SRF Newsletter yesterday, make sure you sign up!
SSB is off and running.
Webinars, another tomorrow in Spanish
Sprint next Saturday - April 24th
Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina
SSB - Seizure sleep and behavio
Do the surveys! Links are in the newsletter and here:
syngap.fund/ssb-Behavior
syngap.fund/ssb-sleep
syngap.fund/ST
STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett
SCN2A via Praxis, SCN8A & BPAN
Tom Frazier (Autism S...2021-04-1710 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. 4 - 2 April 2021 - Ciitizen Study happening! #SyngapCensus = 762, Caren, Kyle & Sprint4SyngapSYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study.
Ciitizen survey pre-trial is signed! Coming soon, look for an email. If you have not joined, ciitizen.com/SYNGAP1
#SyngapCensus = 762
Caren movie is up - great work on subtitles
This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar
#Sprint4Syngap - We are doing well.
Newsletter - Board announcement. Need some volunteers to write the newsletter!
2021-04-0209 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP10 - Ep 3 - 29 March 2021 - Webinars, Warriors, Work, Caren subtitles & Sprint4SyngapWebinars: Jo, SRFCC1 and so many others are up our beautiful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them? Is your SynGAPian among them? SynGAP.Fund/Warriors Work: Do you have time to help? Know a film maker. Caren subtitles: we are working on them. Sprint4Syngap: we're upping the goal to $100k, we can do this.2021-03-2710 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 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
Once Upon A GeneTime is Brain - SynGap Research Fund with Mike GragliaTime is Brain: SYNGAP Research Fund with Mike GragliaBo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all their rare stories in one place. You can access the channel with a Roku or Amazon Fire TV Stick. I had the honor and opportunity to narrate one of these films, The Foundations of Rare: The SYNGAP Research Fund and that’s how I connected with my next guest.Mike Graglia is a dad on a mission. His son is one of around 600 patients born with SYNGAP1, a...2020-07-3035 min