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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
Saturday Aug 12, 2023
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:
Episode 111 of #Syngap10 - August 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Sunday Jul 30, 2023
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:
Episode 110 of #Syngap10 - July 31, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Thursday Jul 20, 2023
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:
Episode 109 of #Syngap10 - July 20, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Thursday Jul 13, 2023
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
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:
Episode 108 of #Syngap10 - July 13, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Wednesday Jun 14, 2023
Wednesday Jun 14, 2023
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
RECENT EVENTS
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
- 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:
Episode 107 of #Syngap10 - June 14, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday Jun 06, 2023
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.
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:
Episode 106 of #Syngap10 - June 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Friday May 19, 2023
Friday May 19, 2023
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 work to do, volunteer 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:
Episode 105 of #Syngap10 - May 19, 2023
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday May 09, 2023
Tuesday May 09, 2023
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 <- https://syngap.fund/sprint23
Phoebe was just diagnosed this year, so it was our first year participating in Sprint4Syngap. We had over 75 family, friends, neighbors, and supporters attend our event in DC.
Stoke - Earnings and steady progress.
“This morning we reported Q1 financial results and provided a few business updates. Stoke is on-track to report new data from the ongoing Phase 1/2a clinical studies of STK-001 in children and adolescents with Dravet syndrome in mid-2023. The data readout will focus on safety and seizure frequency results for up to 16 patients who received three doses of 45mg of STK-001 and there are plans to initiate a pivotal study in 2024, pending this additional data. Also, as we recently shared, Stoke received authorization to initiate a Phase 1/2 study in the UK of STK-002, an investigational new treatment for Autosomal Dominant Optic Atrophy (ADOA).”
Deck: https://investor.stoketherapeutics.com/static-files/40ff9e8c-9554-4164-911e-4438676d9001
$ 254.2M as of 3/31/23 (because of Acadia deal)
Webinars - https://syngap.fund/webinar
- McKee is up and a must watch - such tremendous data (Sign up for ciitizen, https://ciitizen.com/syngap1)
- Smith 5/11 - Catatonia in Neurodevelopmental Conditions https://syngap.fund/smith
- Lacoste 5/18 - Involvement of the brain endothelium in neurodevelopmental disorders https://syngap.fund/lacoste
Podcasts
- Syngap Stories, interviews, see #7 with Peter Halliburton https://www.syngapresearchfund.org/syngap-stories
- OUAG with Janie Reade #184 https://effieparks.com/podcast/episode-184-more-of-everything
#BrainDonationAwarenssDay
- https://www.syngapresearchfund.org/post/syngap-research-fund-srf-partners-with-autism-brainnet
- https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet
- https://twitter.com/cureSYNGAP1/status/1655180930644951041
Red-eye! Congrats to Chow Lab for SYNGAP1 Press
Paper Alert! #ASO
- Prosser on ASO - https://threadreaderapp.com/thread/1655611277232967681.html
Big trip
- Boot Camp - https://twitter.com/JMGraglia/status/1652026502899445760
- CHOP - More in Next Episode (#S10e105) Sydney & Yulia https://twitter.com/JMGraglia/status/1653479046905249820
- RDDS - GG with Yulia - https://twitter.com/GlobalGenes/status/1653415768317370373
- St. Jude with Kevin - https://twitter.com/JMGraglia/status/1654560540541288448
RIP Marie
#MDBRSRF - 32 days - June 10, 2023
#SyngapConf - 205 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- Book hotels ASAP: https://syngap.fund/2023hotel
Remember the Biorepository Roadshow - https://syngap.fund/roadshow
List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB
- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer 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:
Episode 104 of #Syngap10 - May 9, 2023
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Wednesday May 03, 2023
Wednesday May 03, 2023
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 raised $1,864
Team Naya raised $1,795
Team Patrick raised $1,240
Kilometers4Kai raised $952
March4McKaela raised $550
Online Fundraisers:
Phoebe’s fight’s total is $32,269
Team Rocco 10,698
Team Fallyn total 1402
Team Saydee total 1123
Sprinting for Laila up in Canada raised $1029
Misko’s family in the Czech Republic is at $850
Team Teddy raised $600
Hope for Reef raised $553
Team Lizzy at $100
Rifton Giveaway
Congrats to Andrew who won the customize Rifton bike!
Sprint4Syngap 2024
Saturday, April 27
There is so much work to do, volunteer 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:
Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap
#fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday Apr 25, 2023
Tuesday Apr 25, 2023
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.
- Fundraising page: https://syngap.fund/sprint23
What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368
Caregiver Connect from DSF
Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at:
- https://dravetfoundation.org/caregiver-resources/caregiver-connect/
- aka https://syngap.fund/dsfcc
Rare News Updates
- PGx, just do it.
- Killer paper overview on therapy types
#MDBRSRF - 46 days - June 10, 2023
#SyngapConf - 219 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- Book hotels ASAP: https://syngap.fund/2023hotel
Remember the Biorepository Roadshow - https://syngap.fund/roadshow
List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB
- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)
- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
- (Potential) Angelman Foundation, November 2023 (Orlando, FL)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer 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:
Episode 102 of #Syngap10 - April 25, 2023 #DNAday
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat