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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
Friday Mar 24, 2023
Friday Mar 24, 2023
Milken 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
Amazing Webinars
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
#Sprint4Syngap - 36 days, April 29, 2023
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 79 days - June 10, 2023
#SyngapConf - 252 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 98 of #Syngap10 - March 23, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Thursday Mar 16, 2023
Thursday Mar 16, 2023
Community 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.
- Your future will be different and we have written that story, see McKee and Brimble
- https://twitter.com/JillianLMcKee/status/1600202742269501442
- https://twitter.com/cureSYNGAP1/status/1636177159059574784
- We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/
- Choose hope, love you kiddo by joining SRF and working with us for a better future.
Amazing Webinars
- From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- 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 - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
Stoke and Praxis Updates
- Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration
- Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1
- See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf
#Sprint4Syngap
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Monday Mar 06, 2023
Monday Mar 06, 2023
RD 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
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY
Amazing Webinars
- From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- 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 - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
Listen to #S10e95
There is so much work to do, volunteer Info@SyngapResearchFund.org [
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday Feb 28, 2023
Tuesday Feb 28, 2023
Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95
It’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://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
Deadline for Grants is 3/1
#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 Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY
Amazing Webinars
- 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 - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
iPSCs & Missense Mutations/Variants
- https://www.syngapresearchfund.org/ips-cell-models
- 30 lines, 3 missense on the list, 1 more in Europe I know about
- I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line.
There is so much work to do, volunteer
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 95 of #Syngap10 - February 28, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Thursday Feb 23, 2023
Thursday Feb 23, 2023
We have a $20k match!
- 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.fund/mckee
Killer Blogs on Free Genetic Testing
- Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up
- How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy
- Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1
- List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1
PRAX-222 Day!
- https://twitter.com/cureSYNGAP1/status/1628189201232699393
Syngap Stories is on!
https://www.syngapresearchfund.org/syngap-stories
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 94 of #Syngap10 - February 23, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Monday Feb 13, 2023
Monday Feb 13, 2023
-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
- #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 fast.
- Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
- Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
- Hotels are cool, start planning for a great weekend in December in Florida now…
- Short Link: https://syngap.fund/2023conf
- Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform
-Grief: https://twitter.com/curesyngap1/status/1623934799009419265
- ENDD Webinar hosted by STXBP1
- Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616
- Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE
- More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 93 of #Syngap10 - February 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Wednesday Feb 08, 2023
Wednesday Feb 08, 2023
- Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1
- 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=XfQ6xkKY7cQaFZnRTbaSNw
- Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7
- We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories
- Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
- Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1
- Three ways to raise money!
- We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
- Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1
- We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials
- Many other signs of progress
- RSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg
- Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/
- Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 92 of #Syngap10 - February 8, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday Jan 31, 2023
Tuesday Jan 31, 2023
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 Day!
https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable
Grant applications due March 1, 2023
https://www.syngapresearchfund.org/professionals/grants/how-to-apply
Priority Areas:
- Biomarkers & Endpoints
- VUS Resolution
- Characterizing SYNGAP1 patients in the literature
- SYNGAP1 Translational Science
Help Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each.
- Short link: https://syngap.fund/UCSF_survey
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 91 of #Syngap10 - January 31, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Saturday Jan 21, 2023
Saturday Jan 21, 2023
Seven Ways to help:
- Post a video with a seizure
- Take a 10 minute survey
- Tell us how you feel about Simons and Rare-X
- Signup for or Update Ciitizen
- Signup for or share a Wednesday Warrior
- Buy JR’s book and give it to someone
- Plan your fundraiser this year
Videos of kids with seizures. #SYNGAPseizure
#biomarker
Help Research with this brief survey. Tell a friend and share these links - 150 & counting, $50 each.
- Short link: https://syngap.fund/UCSF_survey
Simons and Rare-X - What do you think?
- https://www.simonssearchlight.org/research/what-we-study/syngap1/
Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Another special Wednesday Warrior, please read - 17 year old
- https://www.syngapresearchfund.org/syngap-warrior/eli-2
- https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story
JR WEBINAR - MORE OF EVERYTHING - BOOK
- Recording Available - https://syngap.fund/jr
- Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL
Congrats to the Stromgaard Lab on a big award.
- https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw
Thank you to Ingo for updating your graphic on genes
- https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 90 of #Syngap10 - January 21, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
Sunday Jan 15, 2023
Sunday Jan 15, 2023
JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89
JR WEBINAR - MORE OF EVERYTHING - BOOK
- Thursday January 17, 2023 - https://syngap.fund/jr
- Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA
ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA.
- Login/Signup for Rare-X https://syngap1.rare-x.org/
- Take the ORCA
Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data. And how distinct SYNGAP1 is…
- Thread https://twitter.com/JMGraglia/status/1612978647107002368
- Distinct https://twitter.com/JMGraglia/status/1612978675053658113
- SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442
Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
All about Syndrome Management, let’s get beyond seizures.
https://twitter.com/CNSdrughunter/status/1612863006148366356
PRAX-222 is number 3. So exciting. To see ASOs go into the Brain.
- Stoke with #SCN1A
- Ultragenyx with Angelman Syndrome
- Praxis with #SCN2A via #PRAX222
- Who will 4 be? Will it be #CDKL5? #STXBP1? SYNGAP1?
Very special Wednesday Warrior, please read - 19 year olds
https://twitter.com/cureSYNGAP1/status/1613263197930422272
Ellen’s Dx Journey - 40 year old
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 89 of #Syngap10 - January 14, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology