
70 episodes

SynGAP10 weekly 10 minute updates on SYNGAP1 (video) Syngap Research Fund, 501(c)(3)
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5.0 • 60 Ratings
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SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.
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YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRF
REFRESH RECORDS COLLECTION
Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.
SIGN UP FOR TRACKER SURVEY
If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”
The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”
DO IT EVERY DAY FOR 30 DAYS
WATCH THE WEBINAR (Number: 64)
FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/
YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/
IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1
LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE
KEY REMINDERS
FUNDRAISERS
BOWIE/ID in US syngap.fund/bowie
BOWIE/ID in CANADA syngap.fund/overcome
MICE: Help us Make 2! https://syngap.fund/2mice
BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/
13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 70 of #Syngap10 - August 12, 2022
#PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration -
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Why the Bowie grant is so exciting! Our second collaborative grant! #s10e69
First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel).
Second grant: Here is the press release and social media on the Bowie grant.
- Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514
- Twitter: https://twitter.com/curesyngap1/status/1552642957546700800
- LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200
- Press Release: https://www.eurekalert.org/news-releases/960181
1. We have LOTS of requests for support, many are good. So you should join us in supporting this one.
2. This is exciting - Quality and Focused - We said yes.
The Bowie Grant story. Excellent and committed to SYNGAP1. Can’t help but like the guy.
Key words from press release:
Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover.
3. Global Collaboration - Overcome and Campdraft/SRF-Australia
Tax deductible Donations in TWO Countries for this grant:
- US syngap.fund/bowie
- CANADA syngap.fund/overcome
4. Reminder: Infrastructure is huge and it’s here for you.
Don’t take for granted the work that is required to give you opportunities to fund. Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations. It’s here for you, fund the work!
FUNDRAISERS
- BOWIE/ID in US syngap.fund/bowie
- BOWIE/ID in CANADA syngap.fund/overcome
- MICE: Help us Make 2! https://syngap.fund/2mice
- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
- 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala
- 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/
- 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
- 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 69 of #Syngap10 - July 29, 2022
#Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration -
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This week was ripe with a promising future! #s10e68
Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).
Monday
- Invitae Announcement
https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx
- Sign up for Ciitizen: https://syngap.fund/ciitizen
- CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy.
We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “
Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx
Tuesday
- Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1
- “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.”
- https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg
Wednesday
- Sample collection at Stanford.
- Planning for end of year, see below.
Thursday - CHOP Update
- https://www.helbiglab.io/
- https://www.youtube.com/watch?v=JVTnkQCtQNo
Friday - Disease concept interview, Rarebase & Colombia
- WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022.
- https://www.rarebase.org/
- Vicky is also building community in LatAm, there is a reunion this weekend!
https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w
FUNDRAISERS
- MICE: Help us Make 2! https://syngap.fund/2mice
- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
- 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
- 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 11 Weeks: October 12-15 in OH - Child Neurology Society
- 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
- 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
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 68 of #Syngap10 - July 25, 2022
#Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration -
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Take time to grieve & then come back to this community to grow. #s10e67
COMMUNITY
Two blogs you must read:
- Charlie https://syngap.fund/charlie
- MDBR https://syngap.fund/unite
Vicky is also building community in LatAm, there is a reunion this weekend!
https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w
LEARNING
Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/
- Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o
- Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E
- Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw
- Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo
Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16
FUNDRAISERS
- MICE: Help us Make 2! https://syngap.fund/2mice
- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
- 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
- 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
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 67 of #Syngap10 - July 18, 2022
#CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration -
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Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66
#SyngapCensus for 2q22 is 1098!
https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022
Incidence and Prevalence Article
https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed
GRANT TO COURTNEY LAB - Spread the word
-Twitter: https://twitter.com/JMGraglia/status/1544634675808722946
-LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/
-Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl
-Press Release: https://www.eurekalert.org/news-releases/957967
GENETICS
Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation
Protein Truncating:
- Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation
- Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation
FUNDRAISERS
- MICE: Help us Make 2! https://syngap.fund/2mice
EVENTS
-September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
-October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
-October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
-November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
-December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
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 66 of #Syngap10 - July 6, 2022
#CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration -
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We are learning from the best - A read out from #DSFinDFW Conference. #S10e65
WEBINARS
- 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/status/1540339186187788289
- Day 3 https://twitter.com/JMGraglia/status/1540709603406540803
- DSF https://dravetfoundation.org/
- Conference https://dravetfoundation.org/events/dsf-conference/
- Dr. Andrade / AGE - https://www.uhnresearch.ca/researcher/danielle-andrade
- Dr. Perry & Dr. Papadelis at Cook Children’s
- Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/
- Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG
- Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/
- Longboard
- https://www.longboardpharma.com/
- https://pacific.researchstudytrial.com/
- Epigenyx
- https://www.epygenix.com/
- Baraban Lab https://barabanlab.ucsf.edu/
- Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288
EVENTS
September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
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 65 of #Syngap10 - June 28, 2022
#CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Customer Reviews
Fascinating
So fun to follow Mike’s journey with SYNGAP1.
Don’t miss this podcast!
This is such a valuable service to the rare disease community!
A must add to your playlist!
Mike is a trailblazer! His energy and commitment are unmatched! This is an amazing way for everyone to keep up with the incredible work being done at SRF! I believe they are changing the landscape of rare!