SynGAP10 weekly 10 minute updates on SYNGAP1 (audio)

Mike Graglia, Syngap Research Fund

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 and advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think. There are over 762 diagnosed patients on earth according to SRF's #SyngapCensus, if you are related to one of those patients or are a researcher or clinican interested in SYNGAP1, this podcast is for you. Learn more at https://www.syngapresearchfund.org/ read less

Why we need to keep talking about SYNGAP1 #S10e91
4d ago
Why we need to keep talking about SYNGAP1 #S10e91
Why 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 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 - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund 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 91 of #Syngap10 - January 31,  2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://anchor.fm/syngap10/message
Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90
21-01-2023
Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90
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 - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund Simons and Rare-X - What do you think? - https://syngap1.rare-x.org/ - 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: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 90 of #Syngap10 - January 21,  2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89
16-01-2023
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/1612978647107002368Distinct https://twitter.com/JMGraglia/status/1612978675053658113SYBGAP1 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. 1. Stoke with #SCN1A 2. Ultragenyx with Angelman Syndrome 3. Praxis with #SCN2A via #PRAX222 4. 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 https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son 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 --- Send in a voice message: https://anchor.fm/syngap10/message
New Grant, Rare Affair, SYNGAP1 research and events  #S10e88
10-01-2023
New Grant, Rare Affair, SYNGAP1 research and events #S10e88
NEW 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.rarescience.org/rare-science-partner/syngap1-research-fund/ #SYNGAP1 in BEYOND THE ION CHANNEL https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/ #HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w #NOSPHARMA HAS #SYNGAP ON THE PIPELINE https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/ See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ 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 88 of #Syngap10 - January 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87
05-01-2023
SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87
SRF 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.linkedin.com/feed/update/urn:li:activity:7014595296269586432 Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02V5WJnsGZaVj1MR9fotCY2NGEAuWZoNPKrmFf5YaWuQjhSRL3WM6BiHtf63KGFfAcl Source https://dnapodcast.com/episodes/2022/12/30/217-syngap1-with-mike-graglia-and-elli-brimble DEANNA IS AMAZING Wednesday Warrior https://www.syngapresearchfund.org/families/support/syngap-warriors Sign up to be a warrior https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story Photos https://twitter.com/JMGraglia/status/1610790226607366144 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 87 of #Syngap10 - January 4, 2023 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
#SYNGAPconf22 was a hit, join us in 2023… #S10e86
29-12-2022
#SYNGAPconf22 was a hit, join us in 2023… #S10e86
PREREGISTER 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/feed/update/urn:li:activity:7013986280099250177 CIITIZEN DATA BY CHOP https://twitter.com/JillianLMcKee/status/1600202742269501442 SIGN UP FOR CIITIZEN ciitizen.com/syngap1 SCIENCE DAY AGENDA https://twitter.com/sandysmith317/status/1598322472037801984 FAMILY DAY AGENDA 8:30 AM SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky 10:45 AM REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:15 PM GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:15 PM PRAXIS 1:40 PM TAKING ON BEHAVIORS - Jackie Kancir, SYNGAP1 Mom & Advocate 2:30 PM MORE OF EVERYTHING BOOK LAUNCH - Janie Reade, SYNGAP1 Mom & Author 3:20 PM SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky 3:45 PM SRF YEAR IN REVIEW - Rebecca, Peter, Pavel 4:30 PM LOOKING TO THE FUTURE - Mike 6:30 PM COMMUNITY DINNER 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 86 of #Syngap10 - December 29,  2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
#ImpatientOptimism is the appropriate feeling for this moment… #S10e84
30-11-2022
#ImpatientOptimism is the appropriate feeling for this moment… #S10e84
#InpatientOptimism is the appropriate feeling for this moment… #S10e84 Targeting Epilepsy Meeting at St. Jude: https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study Go Team Canada and Overcome for Bowie Small Molecule Grant! https://www.eurekalert.org/news-releases/960181 https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g John Oldenhof, an #STXBP1 dad talks about two key points. https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/ #S10e83 on Stoke and TimeOnDrug https://www.youtube.com/watch?v=7uK2dCs53Ew #GivingTuesday - Support SRF! https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022 Genomenon: https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html Combined Brain: https://combinedbrain.org/ Thank you Heather and Spark! https://sparkforautism.org/discover_article/autism-answers-research/ https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g 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 84 of #Syngap10 - November 29,  2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE   #S10e82
14-11-2022
Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82
ATLANTA 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: Summer@SyngapResearchFund.org Today! 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, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner 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 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81
10-11-2022
SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81
ATLANTA: 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, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner GENETIC THERAPY UPDATES #S10e80 https://youtu.be/xeo94GViXiw :-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html :-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/ “we are working to develop an ASO against PRNP as a therapy for prion disease… Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it. I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.” SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/ Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist= Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt= CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball 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 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
ASOs in the news, let’s discuss in Nashville!  #S10e80
01-11-2022
ASOs in the news, let’s discuss in Nashville!  #S10e80
Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888 CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html Total: https://www.justgiving.com/fundraising/ufd-cftc-2022 Tweet: https://twitter.com/UFDTech/status/1585640994652889089 Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8 Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU #S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU FOUR EVENTS LA: 11/1: https://epilepsyawarenessday.org/event-info/information/ ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap BOSTON: 11/13 Call Sandy. NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 Another incidence paper! Thanks Maddie Gillentine, PhD: https://twitter.com/maddieag/status/1586421844566908928 4/100 number: https://twitter.com/maddieag/status/1586422427076022273 ASOs ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Sad news KCNT1 News: https://twitter.com/cureSYNGAP1/status/1585613781467484160 Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705 Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001 Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674 Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy 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 80 of Syngap10 - October 31, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
#UFDcure CANNONBALL2 is a wrap/half done.   #S10e79
25-10-2022
#UFDcure CANNONBALL2 is a wrap/half done. #S10e79
#UFDcure CANNONBALL2 is a wrap/half done. #S10e79 CANNONBALL! Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022 Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIo UPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8 Twitch: https://www.twitch.tv/ufdisciple Brett: https://twitter.com/UFDTech Peter: https://twitter.com/phalliburton Kevin: https://fryereeves.com/kevin-w-frye/ VISITS Pavel: https://twitter.com/SydneyStel/status/1584233335554854915/photo/2 Sydney: https://twitter.com/SydneyStel/status/1583079166014263296?s=20&t=YGu_OlFePZ5_jEhZvMj97g Rebecca: https://twitter.com/SydneyStel/status/1584233335554854915/photo/3 Virginie: https://twitter.com/McNamarVirginie/status/1583871153231183872?s=20&t=YGu_OlFePZ5_jEhZvMj97g Lauren: https://twitter.com/UFDTech/status/1584003603463045120?s=20&t=YGu_OlFePZ5_jEhZvMj97g RAREBASE https://www.rarebase.org/ AMAZING PRESS TV - CBS - NY https://www.cbsnews.com/newyork/news/dads-take-dares-for-donations-on-cross-country-road-trip-raising-money-for-syngap1-research/ FORBES https://www.forbes.com/sites/billroberson/2022/10/21/electric-cannonball-run-dads-drive-a-tesla-model-y-cross-country-to-fight-a-disease-affecting-their-sons/ FOX https://www.foxnews.com/us/dads-drive-across-country-expand-awareness-kids-rare-disease TONY https://threadreaderapp.com/thread/1582766217810493441.html UPCOMING EVENTS NOVEMBER IS GIVING SEASON! 3 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 6 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 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 79 of Syngap10 - October 23, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress.  #S10e77
05-10-2022
SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77
INCREDIBLE 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/ EVERY PATIENT MATTERS Census is now at 1,135 Patients. https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022 https://twitter.com/cureSYNGAP1/status/1576246751974944768 GLOBAL FILE SRF Site is now in all Languages! Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see - https://twitter.com/JMGraglia/status/1577319370081980416 - https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv EVENTS ARE COMING NEXT WEEK on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap News Report: https://www.youtube.com/watch?v=a7sBTkL5KLo 2 Weeks: October 12-15 in OH - Child Neurology Society 3 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 6 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 8 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path etc. 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 77 of Syngap10 - October 4, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76
26-09-2022
Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76
EVERY PATIENT MATTERS Lots of work with doctors these days. e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706 e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 WE ARE GLOBAL SRF Site is now in all Languages! Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72 Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo! Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/ Netherlands 🇳🇱- We have a Rare-X Platform and everyone should engage. Sign up at https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program Watch #S10e71 starting at 5:30 https://youtu.be/iPoOjKBwPfY?t=333 Sign up: https://syngap1.rare-x.org/ UK 🇬🇧- News coming. EVENTS ARE COMING 2 Weeks on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 3 Weeks: October 12-15 in OH - Child Neurology Society 4 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 7 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 10 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 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 76 of Syngap10 - September 25, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾‍💻 Simons & Invitae #S10e75
18-09-2022
We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾‍💻 Simons & Invitae #S10e75
GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules… #GlobalGenes #CareAboutRare EVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8 weeks! November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 11 weeks! December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat RAREBASE Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s We are investing in small molecule repurposing as fast as we can. Four lines… Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022! LINK#UFDtech #CannonballForTheCure #RareBase NOSPHARMA Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8 Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/ #NOSpharma SIMONS/INVITAE PARTNERSHIP Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF. https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122 #SimonsFoundation #Autism #Invitae #ciitizen Satterstrom paper associates SYNGAP1 with Autism strongly https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1 AUTISM BRAIN NETWORK Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/ etc. 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 75 of Syngap10 - September 18, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://anchor.fm/syngap10/message
A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e72
27-08-2022
A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e72
0. SUPPORT OUR PATIENT IN UKRAINE Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/ Tweet: https://twitter.com/JMGraglia/status/1563362473327005698 1. LONGBOARD PHARMA & RAREBASE Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 5. LOTS OF EVENTS TOO! 2 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/5 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala5 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap10 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree13 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 72 of #Syngap10 - August 27, 2022 #SalvaUkrani #helpneeded #Stoke #Acadia #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://anchor.fm/syngap10/message