30.9K
Downloads
174
Episodes
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
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
Saturday Apr 15, 2023
Saturday Apr 15, 2023
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/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097
Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with
Sibling day
John https://youtu.be/J5oBo9zcRUE
LGS https://www.youtube.com/watch?v=kR1nWSEZPfY
Webinars
McKEE 4/27 https://syngap.fund/mckee
SMITH 5/11 https://syngap.fund/smith
Ciitizen SYNGAP1 count is over 2101
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN & Update https://app.ciitizen.com/
Rare News Updates
- Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases
- SCN2A Clinical Trial Site and Video, which is very good!
- https://www.youtube.com/watch?v=z9SqMSO405I
- https://scn2aclinicaltrials.com/
- Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8
#Sprint4Syngap - 14 days, April 29, 2023
- Fundraising page: https://syngap.fund/sprint23
#MDBRSRF - 56 days - June 10, 2023
#SyngapConf - 229 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- Book hotels ASAP: https://syngap.fund/2023hotel
Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A
- Education survey https://forms.gle/YZJZmJavMNKNEBg88
- 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 101 of #Syngap10 - April 15, 2023
#frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Saturday Apr 08, 2023
Saturday Apr 08, 2023
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
- Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing
- Annual Conference - Preregister Syngap.Fund/2023conf
Any great press?
- Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048
- Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643
- Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048
Rare News Updates
- ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016
- Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336
#Sprint4Syngap - 21 days, April 29, 2023
- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 63 days - June 10, 2023
#SyngapConf - 236 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1
- 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)
- SLC6A1 Connect, 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 100 of #Syngap10 - April 8, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Saturday Apr 01, 2023
Saturday Apr 01, 2023
Watch the COMBINEDBrain / TJB Webinar!
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-2023-update-51-in-q1-2023
SYNGAP is HOT
https://www.youtube.com/watch?v=X4iDyHc4xUA
#Sprint4Syngap - 28 days, April 29, 2023
- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 70 days - June 10, 2023
#SyngapConf - 243 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
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 99 of #Syngap10 - April 1, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat.
Friday Mar 24, 2023
Friday Mar 24, 2023
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 - www.jdrf.org - www.runx1-fpd.org
Press is key! Congrats to Peggy
Amazing Webinars
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
#Sprint4Syngap - 36 days, April 29, 2023
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 79 days - June 10, 2023
#SyngapConf - 252 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
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 98 of #Syngap10 - March 23, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Thursday Mar 16, 2023
Thursday Mar 16, 2023
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/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/
- 2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/
- Throw them in occasionally.
Talking to 2 year olds
- LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1
- You are fortunate to know.
- Your future will be different and we have written that story, see McKee and Brimble
- https://twitter.com/JillianLMcKee/status/1600202742269501442
- https://twitter.com/cureSYNGAP1/status/1636177159059574784
- We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/
- Choose hope, love you kiddo by joining SRF and working with us for a better future.
Amazing Webinars
- From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
Stoke and Praxis Updates
- Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration
- Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1
- See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf
#Sprint4Syngap
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
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 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Monday Mar 06, 2023
Monday Mar 06, 2023
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-Appropriations_One-Pager.pdf
- https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf
- https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf
- https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf
#Sprint4Syngap
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY
Amazing Webinars
- From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
Listen to #S10e95
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 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Tuesday Feb 28, 2023
Tuesday Feb 28, 2023
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-advocates/rare-disease-week/
We have a $20k match!
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
Deadline for Grants is 3/1
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY
Amazing Webinars
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
iPSCs & Missense Mutations/Variants
- https://www.syngapresearchfund.org/ips-cell-models
- 30 lines, 3 missense on the list, 1 more in Europe I know about
- I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line.
There is so much work to do, volunteer
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 95 of #Syngap10 - February 28, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat