Shows
CURE SYNGAP1 PODCAST aka SYNGAP10F78.A1,the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185Wednesday, October 1st, 2025. Week 40.
SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht. Our code is F78.A1
Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/
Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg
Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
W...
2025-10-0109 min
CURE SYNGAP1 PODCAST aka SYNGAP10DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184Friday, September 26, 2025. Week 39.
In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.
DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)
Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and wil...
2025-09-2609 minCURE SYNGAP1 PODCAST aka SYNGAP10DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184Friday, September 26, 2025. Week 39.
DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)
Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org...
2025-09-2609 min
CURE SYNGAP1 PODCAST aka SYNGAP10CURE SYNGAP1 joins biotech investors in CAMP4 Tx’s $100M Raise for ASO Program $CAMP #S10e182Wednesday, September 10, 2025. Week 37.
CAMP4 Press Release:
https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR
Let me tell you a story:
EW Story, concern over viability of C4.
Easy to follow financials, Mrkt Cap and Net assets of ~$40M. Net income/EBITDA of -$12.6M in Q2.
Running Phase I / II trials and ramping up for Phase III, not cheap. They need more than they had and capital is hard to get in this market.
But here is the good part, the data is solid, the team is strong, and th...
2025-09-1009 min
CURE SYNGAP1 PODCAST aka SYNGAP10Global Overview of SYNGAP1 Natural History Studies - Support the SYNGAP1 #ProMMiS – #S10e175July 16, 2025. Week 29.
What is a natural history study (NHS)? And why do we care?
We care because we haven’t done this before, heal those born with disease.
Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.
NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PR...
2025-07-1717 min
CURE SYNGAP1 PODCAST aka SYNGAP10CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174July 7, 2025 Week 28
ADAMS CAMP
https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/
CENSUS & WHY WE WILL SEE MORE PATIENTS
AAP recommends Whole Exome as a first line test for GDD/ID.
https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_
SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is.
https://curesyngap1.org/census/
https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0
2025-07-0715 min
CURE SYNGAP1 PODCAST aka SYNGAP10TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO
https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD
Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua
CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/
CAMP4 Update - Hear it from them, in our US or EU Webinar.
US https://curesyngap1.org/resources/webinars/1...
2025-06-2027 min
CURE SYNGAP1 PODCAST aka SYNGAP10SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166Tuesday, March 18, 2025 - Week 12
SYNGAP1 & Unmet Need
Preface
Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories.
This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you.
SRD is slow moving, but suddenly changing and completely enervating.
Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age:
Unrelenting intractable and worsening seizures cause side effects...
2025-03-1825 min
CURE SYNGAP1 PODCAST aka SYNGAP102025 is the year we double down on SYNGAP1. Tune in now. - #S10e157Friday, January 10, 2025
NEWS
Census = 1,530! https://cureSYNGAP1.org/Census
https://cureSYNGAP1.org/NL42
All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24
Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/
AES
JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no...
2025-01-1012 min
CURE SYNGAP1 PODCAST aka SYNGAP10AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156Tuesday, December 17, 2024
Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Summary: http://www.draccon.com/dracaena-report/2024aes
A few comments:
https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV
https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ
https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF
https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy
https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq
https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW
https://www.linkedin.com/posts/s...
2024-12-1821 min
CURE SYNGAP1 PODCAST aka SYNGAP10Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154Friday, November 15, 2024
SRF NEWS
Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf
Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/
Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker!
Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families
We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/
Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://sy...
2024-11-1614 min
Café SYNGAP1Episodio 22: Sara Jimenez y Su Hijo Diego, El Primer Paciente de SYNGAP1 Diagnosticado en GuatemalaSara Jimenez es mamá de Diego de 3 años. Ellos son la primera familia de Guatemala diagnosticada con SYNGAP1, y sin duda tienen una historia inspiradora que nos invita a no darnos por vencidos para encontrar un diagnóstico, dar lo mejor de nosotros como familias por el bienestar de nuestros hijos y sacar de la adversidad lo positivo y seguir adelante.
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético...
2024-11-1544 min
CURE SYNGAP1 PODCAST aka SYNGAP10The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152Tuesday, October 22, 2024
First Principles
Genetic disease means that gene broken since conception.
Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation.
These are delivered via spinal tap or directly to the brain in leading medical centers.
First though, regulators must approve.
Our job
Develop medicines or get industry to - This is happening see Pipeline
Get regulators to approve trials
Get medical centers up to speed on SYNGAP1-Related Disor...
2024-10-2229 min
Mas Que RarasDesde Venezuela a Texas: Hablando de SYNGAP1 con Merlina DávilaEn 2014, Merlina llegó de Venezuela y se estableció en Dallas, TX, junto a su familia. En el 2019 su hija Rosanna fue diagnosticada con SYNGAP1 a la temprana edad de 4 años, tras haber sido erróneamente diagnosticada con retraso global del desarrollo e hipomielinización. Merlina comparte con nosotros su proceso de aceptación de este diagnóstico, cómo la motivó a profundizar su comprensión de esta enfermedad y cómo se ha convertido en una líder en la comunidad hispana de SYNGAP1. Además de ser maestra de niños con necesidades especiales, Merlina es la...
2024-09-1830 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143📝Full show notes: https://syngap.fund/n143
BIO WAS GREAThttps://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp
GRANTS APPROVED
Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!FUNDRAISING
- Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!
- Blane & Ashley Dallen in Canada raised almost $15k via a tournament.
NHS UPDATE...
2024-06-2019 min
CURE SYNGAP1 PODCAST aka SYNGAP10Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143📝Full show notes: https://syngap.fund/n143
BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp
GRANTS APPROVED
Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!
FUNDRAISING
- Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!
- Blane & Ashley Dallen in Canada raised almost $15k via a tournament.
...
2024-06-1919 min
The Neurological Disorder Podcast14. Here's an Ally: Syngap1 Foundation ft. Monica Dudley-WeldonSend us a textToday's episode features Monica Dudley-Weldon! Not only is she the founder and CEO of the Syngap1 foundation, but she also has a background in biology and teaching and attended Law School. Her son, Beckett, was the 6th person in the world and 3rd in the United States to be diagnosed with Syngap1-Related Disorder, an intellectual disorder often accompanied by autism, epilepsy, and other behavioral abnormalities. In this episode, Monica delves into the relatively unknown symptoms of this condition and treatments, such as ASOs (Antisense Oligonucleotide Therapy), that are currently being re...
2024-05-201h 00
SYNGAP1 StoriesRainy Schlosser, SYNGAP1 Mom to Hope, discusses her 4-year-old daughter's journey in life and across the US for 3 studies!Show Notes
Rainy Schlosser is in the middle of a 7,500 mile drive-a-thon to participate in 3 studies to help find a cure for SYNGAP1. She talks with Ashley about the studies, her daughter Hope's incredibly difficult medical journey, what makes Hope happiest, an EEG with Curious George, and the wonderful connections they are making along the way! This is a fundraiser, so please check out Syngap.Fund/Hope4theCure!
All episodes are available at Syngap.Fund/Stories.
Hope's Warrior Story
My SYNGAP1 Drive-a-thon, Hope4theCure
Connect with Rainy & Hope:
Instagram - @Hope4theCure
YouTube...
2024-04-1242 min
CURE SYNGAP1 PODCAST aka SYNGAP10SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136Do this study for UCB: https://Syngap.Fund/QOL24
Two killer publications:
Boston -
https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9
Penn/ENDD -
https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X
Email Info at CureSYNGAP1 dot org for PDFs!
Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!
Background: https://www.youtube.com/watch?v=pagFzSmYK8E
Repurposing is moving apace! More as we have it. Ravicti. But...
2024-03-1617 min
SYNGAP1 StoriesJackie Kancir, SYNGAP1 Mom and Advocacy Leader for SRF talks about daughter Jadyne and shares advice for all rare disease parents.Show Notes
In this special episode, guest host Jessica Johnson talks with Jackie Kancir. The two SYNGAP1 Moms discuss education systems, on the farm with Jadyne (Jackie's daughter), make-up, behavioral issues, Jadyne's optimism, and advocating for your children! This episode will educate everyone in the rare disease world. Behavior is communication - listen for details!
See all episodes at Syngap.Fund/Stories.
Jadyne's Warrior Story
Connect with Jackie:
jackie@curesyngap1.org
Jackie's SRF bio
LinkedIn
Other Links
SRF SYNGAP1 Resources for Education & Advocacy
SYNG...
2024-03-0343 min
Once Upon A GeneMore of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie ReadeONCE UPON A GENE - EPISODE 184More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie ReadeJanie Reade is an author and mom to three adult sons, one with a severe neurodevelopmental disorder caused by a mutation in the SYNGAP1 gene. We'll talk about her unique perspective as a parent and also about her book, More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lifting My...
2024-02-1551 min
SynGAP10 weekly 10 minute updates on SYNGAP1What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611
B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)
C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)
D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability
E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)
F. SYNGAP1 Related-ID - ICD-10 & Hopkins
- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120...
2024-02-1413 min
CURE SYNGAP1 PODCAST aka SYNGAP10What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611
B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)
C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)
D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability
E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)
F. SYNGAP1 Related-ID - ICD-10 & Hopkins
- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)
- h...
2024-02-1413 min
SYNGAP1 StoriesPaulina Polanco, SRF volunteer and sibling to twin sisters with SYNGAP1 shares her very personal story of loss of what could have been, love, and hope.Show Notes
The most moving episode yet! Paulina Polanco is caregiver to her twin sisters Libertad (Libby) and Esperanza (Espy). She delivered a raw, personal address at the 2023 SYNGAP1 Conference hosted by SRF. This episode not only includes that speech, but Ashley talks candidly to Paulina to expand upon her life with twin Syngapians. See all episodes at Syngap.Fund/Stories.
Warrior Story for Libby & Espy
Connect with Paulina:
Instagram
Facebook
Blog Posts Written by Paulina:
SRF – Our Voice is Getting Louder for SYNGAP1!
SYNGAP1 Family Day 2023...
2024-02-1352 min
Café SYNGAP1Episodio 10: Episodio Especial en la Conferencia de SYNGAP1 con Dr. Alfredo González Sulser y Dr. Andrés JimenezEn este episodio especial, platicamos con dos doctores, Dr. Alfredo González Sulser y Dr. Andres Jimenez en la Conferencia SYNGAP1 en Orlando 2023. En el Fondo SYNGAP1 de America Latina estamos unidos trabajando incansablemente para conocer sobre avances científicos, investigaciones en curso, e información para padres y cuidadores. Todo esto alineado con un mismo fin- la cura para SYNGAP1.
Bio de Merlina
Información sobre SRF & SYNGAP1:
Syngap Research Fund
Que es SYNGAP1?
Recursos en Español
Donaciones: https://syngap.fund/Donate
SYNGAP1 & Epilepsia
Porque...
2024-02-0512 min
SYNGAP1 StoriesJessica Johnson, SRF Volunteer and SYNGAP1 Mom shares her positive outlook on raising her son Kai.Show Notes
Living with SYNGAP1 can be challenging, but approaching it with a positive outlook is important. Listen to Jessica Johnson chat with Ashley to talk about her son Kai, who has SYNGAP1. They discuss iPads, music & guitars, finding your community, and more. See all episodes at Syngap.Fund/Stories.
Kai's Warrior Story
Connect with Jess:
Instagram
Instagram (Kai's account)
Connect with Ashley:
afrye@curesyngap1.org
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://curesyngap1.org/
SYNGAP1 Resource...
2024-01-3046 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131Three patient stories… with the same conclusion, we don’t know enough about this disease.
- VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/
- Little lady on Kepra finally getting a new drug.
- Big man getting really odd care, based on EEG
These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every eng...
2024-01-2319 min
CURE SYNGAP1 PODCAST aka SYNGAP10SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131
Three patient stories… with the same conclusion, we don’t know enough about this disease.
- VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/
- Little lady on Kepra finally getting a new drug.
- Big man getting really odd care, based on EEG
These kids are so complicated and the system is just not ready. We...
2024-01-2319 min
SYNGAP1 StoriesHilary Volz, SYNGAP1 Mom to Brycen, talks about Disney movies, genetic testing, behaviors, & more!Show Notes:
We open 2024 where we left off in 2023 - great advice! Hilary Volz joins Ashley to talk about her son Brycen, who has SYNGAP1. They discuss Brycen's favorite (and not so favorite) Disney movies, genetic testing, severe behaviors, his super sibling Kallen, and more. See all episodes at Syngap.Fund/Stories.
Brycen's Warrior Story
Connect with Hillary:
Facebook
Instagram
Other Episode Links:
Fragile X
Helen DeVos Children's Hospital Intensive Feeding Clinic
Connect with Ashley:
afrye@curesyngap1.org
SRF Bio
Link...
2024-01-0936 min
SynGAP10 weekly 10 minute updates on SYNGAP1Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127
12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/
9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx
9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html
10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was i...
2023-12-1510 min
CURE SYNGAP1 PODCAST aka SYNGAP10Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e12712/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/
9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx
9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html
10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1
12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/
12/13/23 - Invitae Press Release Divest - https...
2023-12-1510 min
SynGAP10 weekly 10 minute updates on SYNGAP1ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125ICD-11 = LD90.Y #LD90Y
https://x.com/cureSYNGAP1/status/1730629792137883800
Adult paper and study
https://x.com/AledoNeuro/status/1726206128390848604
AES - Lots of SYNGAP1 incl paper with ciitizen data
https://x.com/JillianLMcKee/status/1731420167672942878
RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers
- Chow https://x.com/CNSdrughunter/status/1730233903602872424
- VUS https://x.com/CNSdrughunter/status/1730268276989571512
- Genetic Therapies https://x.com/dretico/status/1730298959824875741
FD23 - 60 Families fro...
2023-12-0612 min
CURE SYNGAP1 PODCAST aka SYNGAP10ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125ICD-11 = LD90.Y #LD90Y
https://x.com/cureSYNGAP1/status/1730629792137883800
Adult paper and study
https://x.com/AledoNeuro/status/1726206128390848604
AES - Lots of SYNGAP1 incl paper with ciitizen data
https://x.com/JillianLMcKee/status/1731420167672942878
RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers
- Chow https://x.com/CNSdrughunter/status/1730233903602872424
- VUS https://x.com/CNSdrughunter/status/1730268276989571512
- Genetic Therapies https://x.com/dretico/status/1730298959824875741
FD23 - 60 Families from 16 Countries. Awesome leadership.
2023-12-0612 min
SYNGAP1 StoriesSpecial Episode - On Giving Tuesday, we present the best advice from SYNGAP1 Stories guests from the past year!Show Notes:
This is the Best Episode of 2023! Every SYNGAP1 parent had a story to tell Ashley and advice for others. This compilation has it all! Good advice is good at any time, no matter how many times you hear it, and this episode has a lot of advice that relates to all in the Rare Disease Community. We hope you enjoy, and if you’ve missed any episodes, you can see them all at Syngap.Fund/Stories.
Please help us on Giving Tuesday so that we can continue our effort to find a cure for al...
2023-11-2850 min
SYNGAP1 StoriesFAQs for SRF’s SYNGAP1 Conference 2023 - Operations Mgr. Lauren Perry joined Ashley recently with all you need to know.Show Notes:
This episode is dedicated to the upcoming SYNGAP1 Conference 2023, hosted by SRF. Pricing goes up after 10/31. Registration closes 11/8. Don't delay! Register now here! Special Thank you to our sponsors, including our Gold-level sponsors, Stoke Therapeutics / Acadia Pharmaceuticals!
Book your rooms here
Order T-shirts here
Friday night Caregiver Dinner tickets here
Lauren Perry - SRF Bio
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - ...
2023-10-3115 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
htt...
2023-10-2517 min
CURE SYNGAP1 PODCAST aka SYNGAP10SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
https://www.syngapresearc...
2023-10-2517 min
SYNGAP1 StoriesNancy Kessler, SRF BOD member, talks about her sister, Caren, the oldest known person living with SYNGAP1 at age 67. A fascinating story - check links in show notes for even more of her story!Show Notes:
Nancy Kessler is an SRF BOD member, an active volunteer & advocate, and has hosted the SRF Gala honoring her sister Caren Leib for three years, including coming up on October 21, 2023. Caren is the oldest known person diagnosed with SYNGAP1. It is impossible to do justice to her 67 years on this planet, but luckily, Caren starred in her own movie, and Nancy has shared numerous other stories about her sister’s life. We hope you enjoy this unique episode, then check out the links below to learn even more about this family that is so special to...
2023-10-1737 min
SYNGAP1 StoriesJulie Miles, SRF BOD member, talks about Miller's SYNGAP1 journey, getting 'The Call', activities Miller loves, the upcoming Scramble for SynGAP, & patience.Show Notes:
Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP’ in Traveler’s Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming!
Julie’s SRF Bio
WSPA-7 News Video
Scramble for SynGAP
Follow Ashley Frye:
SRF Bio
LinkedIn...
2023-10-0347 min
CURE SYNGAP1 PODCAST aka SYNGAP10Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117CALLS TO ACTION
Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this surveySurvey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
Tweet https://x.com/PedsGCAbby/status/1706446478904811750
Great papers
Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
https://x.com/cureSYNGAP1/status/1706770818703953955
Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism model...
2023-09-3011 min
SynGAP10 weekly 10 minute updates on SYNGAP1Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117CALLS TO ACTION
Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this survey
Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
Tweet https://x.com/PedsGCAbby/status/1706446478904811750
Great papers
Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
https://x.co...
2023-09-3011 min
SYNGAP1 StoriesSydney & Brett Stelmaszek, SRF volunteers, share their journey with their 3 sons to find the best care for Emmitt, diagnosed w/ SYNGAP1 in 2019.Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children’s Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is...
2023-09-191h 08
CURE SYNGAP1 PODCAST aka SYNGAP10Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116Congrats to…
- Allan Blake on his airborne fundraiser for SRF UK
- Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes)
- Beacon on their FDA approval on the Sleep Headband Dream 3S
- Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
...
2023-09-1912 min
SynGAP10 weekly 10 minute updates on SYNGAP1Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
Sti...
2023-09-1912 min
SYNGAP1 StoriesVicky Arteaga is the Latin America Director of SRF & SYNGAP1 Mom to Amelia. Her efforts help the SYNGAP1 community in Latin America & across the globe.Show Notes
Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia’s progress, the joy she brings to the family, a new service dog, SRF’s latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish.
Amelia’s Warrior Story & Instagram Post
Vicky’s Bio
Follow Vicky:
Instagram - @vickyart78
Instagram Fondo - @synga...
2023-09-1235 min
SYNGAP1 StoriesMike Graglia, SRF Managing Dir. & SYNGAP1 Dad to Tony. Going back to school can be difficult. Tony's experience shows that it's so much harder for kids with SYNGAP1!Show Notes
Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure...
2023-08-3051 min
Café SYNGAP1Episodio 01: Valeria Torcetta y Su Hija Charo- La Primera Paciente Diagnosticada con SynGAP1 en America LatinaEpisodio #01
Bienvenidos a nuestro nuevo podcast, Café SynGAP1!
En nuestro primer episodio, nos acompaña Valeria Torcetta, una invitada especial quien nos habla sobre Charo, su hija con Syngap1, y primera paciente diagnosticada en America Latina y Argentina. Nuestra anfitriona Merlina habla con Valeria sobre lo que ha sido el Syngap1 en la vida de Charo como se han enfrentado a los desafíos, su compromiso y labor incansable por dar a conocer esta patología y promover el diagnostico en Argentina.
Historia de Charo
2023-08-2152 min
CURE SYNGAP1 PODCAST aka SYNGAP10Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112Congratulations 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 SR...
2023-08-1812 min
SynGAP10 weekly 10 minute updates on SYNGAP1Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112Congratulations 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 SR...
2023-08-1812 min
SYNGAP1 StoriesThis week's guest is Stefanie Decker, SYNGAP1 Mom to 5-year-old Saydee, who has "the best smile"!Show Notes:
Ashley and SYNGAP1 Mom Stefanie Decker chat about 5-year-old Saydee. Diagnosed in 2020, Saydee loves water, is a local “celebrity”, and has “the best smile’! Listen to their SYNGAP1 journey and how they handle the ups and downs of living with a rare disease.
Stefanie’s SRF BIO
Saydee’s Warrior Story
More links:
2022 Caregiver Connect - blog written by Stefanie
CHOP Natural History Study
Follow Ashley Frye:
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SYNGAP1 Stories Episode 005 - Pand...
2023-07-2531 min
SynGAP10 weekly 10 minute updates on SYNGAP1FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109Guest 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 sam...
2023-07-2014 min
CURE SYNGAP1 PODCAST aka SYNGAP10FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109Guest 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 roo...
2023-07-2014 min
SYNGAP1 StoriesIn this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon.Show Notes:
In this very candid episode, SYNGAP1 Mom Monica Harding opens up to Ashley about her 17-year-old son Jaxon. She describes his first seizures, aggression, going to church, the impact of COVID changing his schedule, and how it affected the entire family. This is an important glimpse into the struggles and joys a strong family living with SYNGAP1 faces.
Monica's SRF bio
Jaxon's Warrior Story
More links:
Jayden’s Juice
Follow Ashley Frye:
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
S...
2023-07-111h 00
SYNGAP1 StoriesAshley chats with SRF Co-Founder, and SYNGAP1 Mom to Tony, Ashley Evans on the 5th birthday of SRF!Show Notes:
In Episode 11, our host, Ashley, chats with SRF Co-Founder and SYNGAP1 Mom Ashley Evans to celebrate SRF's 5th birthday! They talk about starting SRF, progress made during the past five years, the dedicated community of SRF volunteers, hope for the future, moving, and, of course, Syngapian Tony and his now 5-year-old brother John.
Ashley's SRF bio
Tony's Warrior Story
More links:
Interview with Kayo Conferences
SRF Introductory Video
A Message to the Newly Diagnosed SynGAP-1 Parent
Meet the Global Village of...
2023-06-2739 min
SYNGAP1 StoriesAshley talks with Danielle Williams, Mom to two daughters in Australia, each with SYNGAP1.Show Notes:
Episode 10 comes from "down under" as Ashley talks with Danielle Williams, Mom to two daughters, now 13 & 11 years old, each with the same de novo SYNGAP1 mutation. They talk about the heartbreaks of two diagnoses, living with no sleep, connecting to the community, advice to newly diagnosed families, and the joys of cuddling with a teenager.
Jaeli & Dali’s Story
Williams Family Story
Raising Awareness in the Early Days
Follow Danielle: LinkedIn
Danielle's Business Website
Additional Reading - Five Things Parents Need to Know
2023-06-1343 min
SYNGAP1 StoriesIf you know about SYNGAP1, you likely know this week's guest Lauren Perry, SRF's Operation Mgr. Lauren & Ashley share stories about Will & more than a few laughs!Show Notes:
In Episode 9, Ashley talks with SYNGAP1 Mom & SRF Operations Mgr. Lauren Perry. These two talk about Lauren’s 2 teenage sons, including Will, diagnosed in 2016, seizures, and Will’s recent successful VNS replacement surgery. They also chat about his typical day, markers, and pride in the SRF community.
Will’s Warrior Story
VNS Therapy
Follow Lauren:
Twitter
Email: lauren@curesyngap1.org
Follow Ashley Frye:
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SYNGAP1 Stories Episode 005 - Panda
Panda...
2023-05-3038 min
SYNGAP1 StoriesAshley chats with Certified Christian Life Coach Heather Bensch about her daughter McKaela, who was diagnosed with SYNGAP1 as an adult.Show Notes:
In Episode 8, Ashley talks with SYNGAP1 Mom Heather Bensch, whose daughter McKaela was diagnosed in her 20s. Heather talks about her struggles getting a diagnosis as well as the joys of raising McKaela. Heather is a certified life coach working with and advocating for the special needs community.
McKaela’s Warrior Story
McKaela’s Spark for Autism Story
McKaela’s Facebook Blog
A Sister’s Promise - a post to McKaela from her sister Plum
Follow Heather:
Facebook
Instagram
Twitter
2023-05-1637 min
SYNGAP1 StoriesPeter Halliburton, SYNGAP1 Dad & head of SRF's Resource Mobilization team, joins Ashley.Show Notes:
In episode 7, SYNGAP1 Dad Peter Halliburton joins Ashley to discuss volunteering with SRF in the "early days" compared to now, receiving his son Carter's diagnosis, dealing with seizures, changing doorknobs, and appreciating the joys in Carter's daily life.
Carter's Warrior Story
Follow Peter Halliburton:
Instagram
Twitter
LinkedIn
Contact Peter at peter@curesyngap1.org.
More about the Halliburton Family:
Halliburton Family Video
Cook Children's Hospital Article
Blog by Peter - 8 Months on the Rollercoaster of...
2023-05-0246 min
SYNGAP1 StoriesHow Can a Service Dog Help Your SYNGAP1 or Other Rare Disease Child? Listen as Cecilia Anastos Chats with Ashley.Show Notes:
In Episode 5, Ashley talks with Cecilia Anastos, Founder and Lead Trainer of Meridus K9 & Equine LLC, providing service and emotional support dogs among other services. Panda was recently placed with the Frye family to be Ashley's son Nathan's service dog. In this episode, Cecilia answers the questions, “Can a service dog replace a human?”, “What are the most important things service dogs do?” and “Can service dogs save a child’s life?”
Reach Cecilia at: cecilia@meridusk9.com
Website: www.meridusk9.com
LinkedIn: http://www.linkedin.com/in/ceciliaanastos
Previous...
2023-04-0432 min
CURE SYNGAP1 PODCAST aka SYNGAP10🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, COMBINEDBrain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99Watch 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-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://s...
2023-04-0114 min
SynGAP10 weekly 10 minute updates on SYNGAP1🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, Combined Brain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99Watch the COMMBINEDbrain / 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-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
- Fun...
2023-04-0114 min
SynGAP10 weekly 10 minute updates on SYNGAP1Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98Milken 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
https://www.newsa...
2023-03-2412 min
CURE SYNGAP1 PODCAST aka SYNGAP10Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98Milken 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
https://www.newsandtribune.com/news/cl...
2023-03-2412 min
SYNGAP1 StoriesKali Worth, SYNGAP1 Mom to Kailyn (Kai) is Ashley's guest.Show Notes:
In Episode 4, Ashley talks with SYNGAP1 Mom Kali Worth. Kali talks about missing milestones, epilepsy, genetic testing, expanding your community as a rare parent as well as the joys Kailyn (Kai) brings to her life.
Kai’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/kai
Read Kali's SRF bio, blogs and a video of Kai’s story here.
Follow Kali on Twitter: https://twitter.com/WorthKali
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Donate: https://Syngap.Fun...
2023-03-2132 min
CURE SYNGAP1 PODCAST aka SYNGAP10Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95Rare 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://syngap.fund/rdd23
- https://s...
2023-02-2818 min
SynGAP10 weekly 10 minute updates on SYNGAP1Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95It’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://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
Deadline for Grants is 3/1
- https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
#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...
2023-02-2818 min
SynGAP10 weekly 10 minute updates on SYNGAP1Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94We 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. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- 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 - Date TDB - https://syngap...
2023-02-2311 min
CURE SYNGAP1 PODCAST aka SYNGAP10Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94We 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. Nine more ready to go.
- Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/
Amazing Webinars
- Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox
- J...
2023-02-2311 min
CURE SYNGAP1 PODCAST aka SYNGAP10More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93-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 diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261
-Rare Disease Swarm...
2023-02-1420 min
SynGAP10 weekly 10 minute updates on SYNGAP1More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93-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 diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261
-Rare Disease Swarm - So many genes, moving so...
2023-02-1420 min
SYNGAP1 StoriesOur Host - Ashley Frye tells her family's SYNGAP1 StoryShow Notes:
Host Ashley Frye discusses her family's journey to a SYNGAP1 diagnosis for her son Nathan and living with and caring for a young child with a rare disease.
What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1
Syngap Research Fund: https://www.syngapresearchfund.org/
Follow Ashley:
Facebook: https://www.facebook.com/ashley.hewettfrye
LinkedIn: https://www.linkedin.com/in/ashley-frye-62095582/
Nathan’s Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan
Connect with SRF:
Facebook: https://www.facebook.com/cureSYNGAP1
Tw...
2023-02-0729 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why we need to keep talking about SYNGAP1 #S10e91Why we need to keep talking about SYNGAP1 #S10e91
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 Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science D...
2023-02-0109 min
CURE SYNGAP1 PODCAST aka SYNGAP10Why we need to keep talking about SYNGAP1 #S10e91Press 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 Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science Day!
https://www.sy...
2023-02-0109 min
CURE SYNGAP1 PODCAST aka SYNGAP10Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90Seven 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 links...
2023-01-2111 min
SynGAP10 weekly 10 minute updates on SYNGAP1Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90Seven 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 links - 150 & counting, $50 each.
2023-01-2111 min
SynGAP10 weekly 10 minute updates on SYNGAP1New Grant, Rare Affair, SYNGAP1 research and events #S10e88NEW 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-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences
#RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
https://www.linkedin.com/in/allyson-berent-36621523/
Saving Ryan -
#BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED
https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL
GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU
https://www...
2023-01-1012 min
CURE SYNGAP1 PODCAST aka SYNGAP10New Grant, Rare Affair, SYNGAP1 research and events #S10e88NEW 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-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences
#RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS
https://www.linkedin.com/in/allyson-berent-36621523/
Saving Ryan -
#BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEED...
2023-01-1012 min
DNA Today: A Genetics Podcast#217 SynGAP1 with Mike Graglia and Elli BrimblePatient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene.
Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World...
2022-12-3036 min
CURE SYNGAP1 PODCAST aka SYNGAP10#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85
Dr. Grinspan on AES
https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan
Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022
Dr. Dennis Lal on AES & Genetics
https://twitter.com/LalDennis/status/1600617199110070286
Mike’s Talk at AES
https://twitter.com/LouisTDang/status/1598753675714887684
https://twitter.com/IDreamofGenes/status/1598753872172191745
https://twitter.com/john_oldenhof/status/1598756993073717249
CAMP4 Poster by Ali Al Abdullatif, MsC
htt...
2022-12-2911 min
SynGAP10 weekly 10 minute updates on SYNGAP1#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85Dr. Grinspan on AES
https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan
Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022
Dr. Dennis Lal on AES & Genetics
https://twitter.com/LalDennis/status/1600617199110070286
Mike’s Talk at AES
https://twitter.com/LouisTDang/status/1598753675714887684
https://twitter.com/IDreamofGenes/status/1598753872172191745
https://twitter.com/john_oldenhof/status/1598756993073717249
CAMP4 Poster by Ali Al Abdullatif, MsC
https://twitter.com/camp4tx/status/1601222388317917186
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 he...
2022-12-2911 min
CURE SYNGAP1 PODCAST aka SYNGAP10#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83#ASO in episode #S10e80: https://youtu.be/xeo94GViXiw?t=240
I am #StokedAboutStoke
BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates
Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ
Register for our meeting on December 1 in Nashville:
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path
Further reading:
- STOK Stock https://www.google.com/finance/quote/STOK:NASDAQ?window=1M
- Recent...
2022-11-2319 min
SynGAP10 weekly 10 minute updates on SYNGAP1#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83I am #StokedAboutStoke
BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates
Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ
Register for our meeting on December 1 in Nashville:
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path
Further reading:
STOK Stock https://www.google.com/finance/quote/STOK:NASDAQ?window=1M
Recent paper on ASOs: https://www.karger.com/Article/Pdf/517686
Dr. Kimberly Parkerson of Stoke Therapeutics offers an update on their BUTTERFLY ob...
2022-11-2319 min
CURE SYNGAP1 PODCAST aka SYNGAP10SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY!
https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984
https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3
GRANT ALERT
Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873
COMPANY UPDATE
Stoke Tx https://www.stoketherapeutics.com/
Praxis Medicine https://praxismedicines.com/
Rarebase https://www.rarebase.org/
Beacon Biosignals https://beacon.bio/
Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax
Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.or...
2022-10-0509 min
SynGAP10 weekly 10 minute updates on SYNGAP1SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY!
https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984
https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3
GRANT ALERT
Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873
COMPANY UPDATE
Stoke Tx https://www.stoketherapeutics.com/
Praxis Medicine https://praxismedicines.com/
Rarebase https://www.rarebase.org/
Beacon Biosignals https://beacon.bio/
Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax
Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride
Tevard https://tevard.com/
...
2022-10-0509 min
SynGAP10 weekly 10 minute updates on SYNGAP1YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRFREFRESH RECORDS COLLECTION
Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.
SIGN UP FOR TRACKER SURVEY
If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”
The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”
DO IT EVERY DAY FOR 30 DAYS
WATCH THE WEBINAR (Number: 64)
FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/
YT: https://www.syng...
2022-08-1210 min
CURE SYNGAP1 PODCAST aka SYNGAP10YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRFREFRESH RECORDS COLLECTION
Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.
SIGN UP FOR TRACKER SURVEY
If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”
The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”
DO IT EVERY DAY FOR 30 DAYS
WATCH THE WEBINAR (Number: 64)
FB: https://www.facebook.com/cureSYNGAP1...
2022-08-1210 min
Looking Forward®: It's All About Opportunities!SYNGAP1: A FACTOR IN AUTISM, EPILEPSY, AND OTHER MEDICAL CONDITIONS, TOO? (EPISODE #1)Hi everyone. Welcome to the premier episode of "Health Care on the Horizon," Looking Forward's new "sister" podcast. Today we’re going to learn about a genetic disorder referred to as SYNGAP1. Most of us have probably never heard of SYNGAP1. That’s largely because it’s only recently been identified. Research is showing it is a significant factor in autism, epilepsy, and possibly other disorders, too, including Parkinson’s disease, schizophrenia, and Alzheimer’s disease.To help us understand what SYNGAP1 is... and much more, we’ve brought on probably the best person out there to dis...
2022-08-1123 min
Health Care on the HorizonSYNGAP1: A Genetic Disorder Involved in Autism, Epilepsy, and Maybe Alzheimer's, Parkinson's, and SchizophreniaHi everyone. Today, we're going to learn about a genetic disorder referred to as SYNGAP1. Most of us have probably never heard of SYNGAP1. That's largely because it's only recently been identified.Research is showing it is a significant factor in autism, epilepsy and possibly other disorders too, including Parkinson's disease, schizophrenia and Alzheimer's disease. In this episode, we'll learn when the problems with the SYNGAP1 gene were discovered, who this affects, where the SYNGAP condition presents itself.We'll also What is being done right now to learn about this genetic disorder and...
2022-08-1123 min
SynGAP10 weekly 10 minute updates on SYNGAP1Why will companies work on #SYNGAP1? #S10e56First, 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 #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1
Third, because they believe they will find more patients and we be...
2022-04-1910 min
CURE SYNGAP1 PODCAST aka SYNGAP10Why will companies work on #SYNGAP1? #S10e56First, 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 #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1
Third, because they believe they will find more patients and we be...
2022-04-1910 min
SynGAP10 weekly 10 minute updates on SYNGAP1Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1BIG 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/WO2017106377A1/en
- #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner
- Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1
SPREAD THE WORD
Twi...
2022-01-1514 min
CURE SYNGAP1 PODCAST aka SYNGAP10Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 #S10e43Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1
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/WO2017106377A1/en
- #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner
- Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1
...
2022-01-1414 min
SynGAP10 weekly 10 minute updates on SYNGAP1How to tell your family about SYNGAP1How 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 give me space
Raise funds with me to help bring therapies and cure closer to reality
2022-01-0709 min
CURE SYNGAP1 PODCAST aka SYNGAP10How to tell your family about SYNGAP1How 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 your 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 give me space
Raise funds with me to help bring therapies and cure closer to reality
2022-01-0709 min
SynGAP10 weekly 10 minute updates on SYNGAP1Let’s catch the Genetic Therapy Tsunami for SYNGAP1!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 more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
...
2021-12-1809 min
CURE SYNGAP1 PODCAST aka SYNGAP10Let’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 more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
- Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! ht...
2021-12-1809 min
SynGAP10 weekly 10 minute updates on SYNGAP1Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.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
- Giving Tuesday Fundraiser: https://syngap.fund/gt21
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
- Sign up for...
2021-12-0409 min
CURE SYNGAP1 PODCAST aka SYNGAP10Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.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
- Giving Tuesday Fundraiser: https://syngap.fund/gt21
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
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2021-12-0409 min
SynGAP10 weekly 10 minute updates on SYNGAP1Inspiring your community and raising awareness for SYNGAP1 - Episode 30 of #Syngap10 - October 8th, 2021- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb
- Family fundraiser: syngap.fund/jansen
- Consider donating to our fundraiser for RareBase. syngap.fund/rb
- SYNGAP1 Patient Voice Publication. syngap.fund/pvp
#F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
2021-10-0910 min
CURE SYNGAP1 PODCAST aka SYNGAP10Inspiring your community and raising awareness for SYNGAP1- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb
- Family fundraiser: syngap.fund/jansen
- Consider donating to our fundraiser for RareBase. syngap.fund/rb
- SYNGAP1 Patient Voice Publication. syngap.fund/pvp
#F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
2021-10-0910 min