SynGAP10 weekly 10 minute updates on SYNGAP1

OUR LEADERS ROCK - Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors - Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom - Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu - Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fon...

LET’S FIND MORE PATIENTS (of color) - https://www.syngapresearchfund.org/syngap-warrior/ethan - https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/ WEBINARS - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the dis...

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60 PREPRINT - SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088 - Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 WEBINARS - #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://s...

Congrats to everyone who did #Sprint4Syngap.  Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872 WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson.  Register at https://syngap.fund/IDEA STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack TWITTER:...

Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html Links mentioned -SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-s...

We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday! THURSDAY Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg SATURDAY 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! &n...

First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200!  Sign up now at https: www.ciitizen.com/SYNGAP1 Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www. SyngapResearchFund.org  ;-) We do cool things like get ICD-10 codes.  I got ANOTHER call (google...

Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad. Sprint4Syngap - Learn more at http://Syngap.fund/sprint - What is Sprint4Syngap? SRF’s annual fun run fundraiser. - Create a team http://Syngap.fund/sprint2022 - Banners http://Syngap.fund/banner Fundraising For a Cause - Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with...

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022  Industry news! - Fintepla for LGS!  Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113  - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178  We announced models to two labs with RDMM an...

Three events to plan on: Jackie’s webinar on Severe Behaviors, Wednesday April 6th.   https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Si...

SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help...

Mike takes a break from all the updates to put things in perspective. This work is critical. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 51 of #Syngap10 - March 14, 2022 #s10e51 #SYNGAP1...

Post RDD - Last day of Feb, b/c rarest day What did we do? Raised $25k! Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824 Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644 Jansen and Kimberly were shared, and that is a win for all of us. https://variantyx.com/2022/02/25/jansens...

COOL START TO THE DAY https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA Grief in convo with Kali about Rare Disease Diagnosis. NEWS We dropped the Zempleni Presser!  How cool is this?  Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729 Zempleni Webinar: Milk exosomes to increase...

Happy National Caregiver Day! The Data Sharing Panel next week will be epic, don’t miss: https://syngap.fund/data Tweet: https://twitter.com/curesyngap1/status/1493282864263090181 Use you ICD Codes!  F78.A1 if you want background: https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1 SRF Case Study here: https://ICDCodeRoadmap.org Get your EEG Tracings!  In ED...

 The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/ Sign up for Ciitizen, make sure you are included: https://ci...

You can’t do this alone, don’t try.  But do Plan.  Lots of planning from SNTs to Brain Donation to Service Dogs. HEADLINE: YOU CAN'T DO THIS ALONE, DON’T TRY -Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows.  We cannot do this alone. PLANNING One parent just asked how to think about planning for the future, here is what...

Old School Syngap10 - Lots of great content in 10 minutes.  Fundraising. Blogs. Webinars. Patient stories. Ciitizen. IT ALL TAKES MONEY - Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley - 2nd Annual Sprint for Syngap is coming April 30, 2022. WEBINARS - La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Mi...

Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext Here is the quote Mike read: “It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will n...

BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ FIVE KEY LINKS - Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO201710...

How to tell your family about SYNGAP1 As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family?  How? When?  As soon as you can! How, well that’s what we talk about today: This is a big deal, let’s not minimize it. I need you help Learn with me Fight insurance with me Help me rearrange my life Help with my SYNGAPian or their siblings Jump into my life, don’t...

2021 by the numbers, 985 patients counted, exciting work ahead! - Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers - The #SyngapCensus is at 985! https://syngap.fund/census - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US! - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a...

Let’s catch the Genetic Therapy Tsunami for SYNGAP1! Episode 40 of #Syngap10 - December 17, 2021 - Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn mor...

Episode 39 of #Syngap10 - December 10, 2021 - Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1 - Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner - Syngap merch https://www.syngapresearchfund.org/shop - SRF’s Blog https://www.syngapresearchfund.org/blog - Fundraise https://syngap.fund/give - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1...

Let’s make sure SYNGAP1 is cured in our lifetime.  It’s up to us. Episode 38 of #Syngap10 - December 4th, 2021 Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers. The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021 Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 Raise funds for SYNGAP1 - Facebook Fundraisers: http://syngap.fund/FBFun -...