SynGAP10 weekly 10 minute updates on SYNGAP1

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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/

Episodes

Sunday Sep 17, 2023

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Sunday Sep 17, 2023

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson

Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/

EURAS Project Press Release https://euras-project.eu/

- Hotels ASAP: https://Syngap.Fund/2023hotel

- Merch https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF!

- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10
- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:
- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 115 of #Syngap10 - September 17, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Sunday Sep 10, 2023

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Sunday Sep 10, 2023

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83

Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

- Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687

- Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525

CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk

ILAE Dublin was a great success -
- Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023
- Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1

Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison

Conference - Sign up by Halloween - We need head counts.

- Registration link: https://Syngap.Fund/Orlando

- Hotels ASAP: https://Syngap.Fund/2023hotel

- Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Presentations

- Pharma - To follow https://syngap.fund/23

- UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda

- Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/

- It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA.

- If you have issues, email Virginie and Mequel.

CANNONBALL 3 is coming! October 4-6. Takeover coming soon.
- Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012

Share your time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611

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/channel/syngap1-podcasts-by-srf/id6464522917

Episode 114 of #Syngap10 - September 10, 2023

Saturday Sep 02, 2023

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Saturday Sep 02, 2023

Super Heroine: Vicky Arteaga

Fondo Syngap is tireless:

- 2 Congreso en Español on September 23, 2023

https://www.syngapresearchfund.org/professionals/2023-en-espanol

Spanish Podcast #CafeSyngap1e01

- YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg

- Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw

- Spotify https://spotify.link/MJZZVMoKGCb

- Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1

#FondoSYNGAP

SRF is at ILAE

- Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6

- Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment

Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani

#SyngapStories #KETO #MAD

- Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20

- Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet

Where have I been all week?

- Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016

Soiree was AMAZING
- Tweet https://twitter.com/curesyngap1/status/1696595956467183904
- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc

Super Heroine: Sydney Stelmazek

- CHOP Update

- 16 seen so far

- 27 signed up

- QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20

CANNONBALL 3 is coming! October 4-6.

Super Heroine: Dr. Danielle Andrade

Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20

Proposals came in today, we need to raise money!
Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate

Share you time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611

CONFERENCE

Registration link: https://Syngap.Fund/Orlando

Hotels ASAP: https://Syngap.Fund/2023hotel

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF! Info@SyngapResearchFund.org

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 113 of #Syngap10 - September 2, 2023

Friday Aug 18, 2023

Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112

Friday Aug 18, 2023

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 Dr. Helbig

https://www.youtube.com/watch?v=i6EZUrqsn2g

In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian

https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf

Congratulations to Dr. Kadam for the SRF supported Case Study

Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full

Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099

- Hotels ASAP: https://Syngap.Fund/2023hotel

- Merch https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF!

- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

Episode 112 of #Syngap10 - August 18, 2023

Saturday Aug 12, 2023

So much news, double catch up episode. #S10e111

Saturday Aug 12, 2023

*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/SYNGAP1/

- SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf

- Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply

VOLUNTEER SITE IS UP

- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

WEBINARS ARE A VALUABLE RESOURCE

- https://www.syngapresearchfund.org/families/resources/all-webinars/webinars

- Yesterday, Dr. Underbakk, Previously with Dr. Courtney

NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness

SYNGAP STORIES
Ashley Frye is killing it. Suzanne Jones just did an episode. The CHOP team listens, so do clinicians. Call Ashley and share your story.

COMPANY UPDATES

- Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2

- Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9

- Have not heard from RegEl or Ionis.

EVENTS

- Getting ready for the Soiree - August 26th.

- Cannonball set for October 4-6

- SRF SYNGAP1 CONFERENCE

- Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

- Watch #s10e109 https://youtu.be/to8SAwdzCmg

BIOMARKERS NEED BIOSAMPLES AND EEGS

- Combined Brain collections are great Dr. TJB met our very own Pavel this weekend! Plasma, plasma, plasma.

- UCLA Study is moving forward for EEG collection. Contact Declan via study page.

Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings. KEEP GOING

- GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207)

- KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)

- NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)

- Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202)

- TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)

- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

- FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)

- ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819)

—---

CONFERENCE

Registration link: https://Syngap.Fund/Orlando

Hotels ASAP: https://Syngap.Fund/2023hotel

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF! Info@SyngapResearchFund.org

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 111 of #Syngap10 - August 12, 2023

Sunday Jul 30, 2023

Adam’s Camp is amazing & so are compression vests #S10e110

Sunday Jul 30, 2023

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

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/

Volunteer with SRF! Info@SyngapResearchFund.org

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 110 of #Syngap10 - July 31, 2023

Thursday Jul 20, 2023

FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109

Thursday Jul 20, 2023

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, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that.

Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world!

T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/

—

Volunteer with SRF! Info@SyngapResearchFund.org

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 109 of #Syngap10 - July 20, 2023

Thursday Jul 13, 2023

Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108

Thursday Jul 13, 2023

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-QOTy42vH52Fw

NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf

What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study

Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/

STUDIES

See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk

But also: UCLA - EEG - West Coast!

Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/

PODCASTS

Brain and Life 1 and 2

https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with

Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis

Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica

Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12)

Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011

Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012

CONFERENCE

Pre-registration link: https://Syngap.Fund/2023conf

Hotels ASAP: https://Syngap.Fund/2023hotel

Merch https://www.bonfire.com/srf-syngap1-conference-2023/

All this was in today’s newsletter! https://Syngap.Fund/News33

Ed is doing a great job with these, thank you Ed!

Volunteer with SRF! Info@SyngapResearchFund.org

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 108 of #Syngap10 - July 13, 2023

Wednesday Jun 14, 2023

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

Wednesday Jun 14, 2023

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-is-a-thing

Family Video and Fundraiser:

Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM

Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday

SRF in the World:

SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice

SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20

STUDIES

ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#

CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS

CORNELL

English https://redcap.link/syngapcaregiversurvey

Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY

COMBINEDBrain Biorepository

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020)
Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082)

CINEMAS STUDY - Mild Intellectual Delay

https://cinemasstudy.com/#right_for_me

PRESS

Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah

FUTURE EVENTS

June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap

August 26 - Syngap Soiree https://e.givesmart.com/events/wiH

October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023

October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/

October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/

Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

Conference pre-registration link: Syngap.Fund/2023conf

Book hotels ASAP: https://Syngap.Fund/2023hotel

T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/

WEBINARS

Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations

- Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1

PODCAST

- Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010

Volunteer with SRF! Info@SyngapResearchFund.org

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 107 of #Syngap10 - June 14, 2023

Tuesday Jun 06, 2023

THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en español & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!

Tuesday Jun 06, 2023

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/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926

Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html

Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449

Two blogs en Español

https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147

https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145

STUDIES

ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#

Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I

Cornell study

English https://redcap.link/syngapcaregiversurvey

Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY

COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

SCIENCE

1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2

"Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease

EVENTS

June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9

June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap

August 26 - Syngap Soiree https://e.givesmart.com/events/wiH

October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023

October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/

CONFERENCE

Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

Conference pre-registration link: https://Syngap.Fund/2023conf

Book hotels ASAP: https://Syngap.Fund/2023hotel
Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/

WEBINARS

June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1

June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations

Recently - Dr. Baptiste Lacoste - Involvement of the brain endothelium in neurodevelopmental disorders https://www.syngapresearchfund.org/webinars/76-involvement-of-the-brain-endothelium-in-neurodevelopmental-disorders-syngap1

PODS

- Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008

- Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009

Volunteer with SRF! Info@SyngapResearchFund.org

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 106 of #Syngap10 - June 6, 2023