CURE SYNGAP1 PODCAST aka SYNGAP10

Congratulations to Dr. Knowles, read our press release. https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy   Check out the CSC Clinic at Stanford https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1   Don’t miss #S10e111 to learn about...

*Note, we aware part of the video froze; that’s life!    RESEARCH! - Dr. Helbig gave a killer presentation today… at Stanford.  It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS.  We need them all.  Sign up for Ciitizen!  https://www.ciitizen.com/...

Adam's Camp: Get on the mailing list! https://adamscamp.org/ Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing   Compression Clothing https://calmcare.com/   Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg — CONFERENCE  Registration link: https://Syngap. Fund/Orlando    Hotels ASAP: https://Syngap. Fund/2023hotel...

Guest Hosts: Ashley Frye & Lauren Perry   THE BASICS Who: Everyone! Families (including extended), caregivers, scientists, industry reps.  What: SRF’s 2nd Annual SYNGAP1 Conference.  - Registration link: Syngap. Fund/2023ConfReg Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center.  - Room block:   https://Syngap. Fund/2023hotel When: Thursday, Novemb...

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf     FASTERCURES See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo   https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train   Census https://Syngap.fund/census - 1,238   CHOP McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QO...

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107   RECENT EVENTS MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration   Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-i...

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events.   SynGAP Paddle Slap *this woman knows how to run a successful fundraising event with very low overhead! Stats: They had 12 teams play in the tournament.  About 120 people joined the crawfish boil.  Actual $ breakdown: Total Actual Income $23,250.00.   Article https://www.localmemphis.com/article/life/...

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org   This is the ENDD of excuses.  Sign up for the CHOP ENDD Study.   There is so much w...

Long trip, but first… Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU ) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event $243,794 of $250,000, 849 Donors

Grand Total: $241,359 – Incredible! Congratulations to all the teams.    In-Person Events:  Team Tavilla raised $162,464…and counting Hope for Hadley raised $10,059… and counting Team Syngap America Latina raised over $2,000 Canada - Team Mya raised over $2800 & Team Chase raised over $2300  Team Andrew raised over $3,200 Team Emma Mae raised over $3,000  Team Kai raised over $2,600 Team Gracyn ra...

Webinars McKEE 4/27 https://syngap.fund/mckee   - Ciitizen SYNGAP1 count is over 212      - Sign-UP https://ciitizen.com/syngap1        - Sign-IN & Update https://app.ciitizen.com/    SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste   #Sprint4Syngap - 4 days, April 29, 2023 - $210k, 652 donors. - https://syngap.fund/sprint   - Fundraising page: https://syngap.fund/spri...

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions…   #S10e101   What’s your neuro emergency plan? https://twitter.com/cureSYNGAP1/status/1646170843503034368   Congrats to Dr. Frazier on the FIRST NET paper:  https://twitter.com/cureSYNGAP1/status/1646573476353044481     Thanks to Kevin for going to Gatlinburg - Kevin https://twitter.com/cureSYNGAP1/status/1...

How is the podcast doing? - Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k   - Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!   What you can do this week? - Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group. - Tell me if you have any GI biopsies planned. - Plan your travel - Biorepos...

Watch the COMBINEDBrain / TJB Webinar! https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1   Frogs are cool https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/     #SYNGAPcensus is at 1,251 https://www.syngapresearchfund.org/post/142-syngapcensus-20...

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 - ww...

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/arti...

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-Appropriat...

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-advoca...

We have a $20k match!  - https://syngap.fund/rdd23   - 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.  Nin...

-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 - https://sparkforautism.org/ - #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE - OUAG - Testing Poem - Roses are red, Violets are blue You gave a diagno...

Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1  News https://twitter.com/cureSYNGAP1/status/1621293977579442177 Follow her https://twitter.com/navneetkmatharu And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852   Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team. Announcement: https://twitter.com/curesyngap1/status/162300039...

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 Ciit...

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 l...

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 http...

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-rese...