70 episodes

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.

SynGAP10 weekly 10 minute updates on SYNGAP1 (video‪)‬ Syngap Research Fund, 501(c)(3)

    • Business
    • 5.0 • 60 Ratings

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.

    • video
    YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRF

    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 

    • 10 min
    • video
    Why the Bowie grant is so exciting!  Our second collaborative grant! #s10e69

    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 

    • 10 min
    • video
    This week was ripe with a promising future! #s10e68

    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 

    • 14 min
    • video
    Take time to grieve & then come back to this community to grow. #s10e67

    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 

    • 10 min
    • video
    Missense Variants are Finally Getting Attention.  Reclassification.  Grants.  #S10e66

    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 

    • 9 min
    • video
    We are learning from the best - A read out from #DSFinDFW Conference. #S10e65

    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 

    • 13 min
  • © Copyright 2021. Syngap Research Fund. All rights reserved.

Customer Reviews

5.0 out of 5
60 Ratings

60 Ratings

FOXG1 Mom ,

Fascinating

So fun to follow Mike’s journey with SYNGAP1.

googlegirl ,

Don’t miss this podcast!

This is such a valuable service to the rare disease community!

jls ocnds ,

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!

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