Afleveringen

  • SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166

    SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, March 18, 2025 - Week 12

    SYNGAP1 & Unmet NeedPreface 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 and require constant vigilance and partnership with NeurosMedication changes can cause issues such at rageLong-term side effects, e.g., bone health issues, from chronic medication useDrug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.)Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait.Behavioral & ID: Our kids have enough physical ability to make behavior very challenging:Pain and behavior compounded by being non-verbal as they grow Violence against family—bites and scratches Violence against self, just sheer frustrationElopement & no sense of danger as a constant stress/burden ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill.Family: Toll on caregivers & family is a heavy cost that is rarely counted: Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family. Exhaustion from the diagnostic journey, assessments, and caregiving.Marriages fall apart under the pressure.Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children.Siblings are the last to be noticed but first affected.

    Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.

    Parents will travel: We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise.Example: the day I wrote this presentation I saw these 4 Facebook posts: VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjplB at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8BlRR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698

    Episode 166 of #Syngap10

    #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

  • Save Medicaid: A Critical Moment for Our Loved Ones

    Save Medicaid: A Critical Moment for Our Loved Ones

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Please give my video a watch and SAVE MEDICAID! Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing. For over 30 years, I’ve been advocating at the state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work together to protect this vital resource. Your support could make a significant difference. To reach out to your Congressional Member consider these two resources:- Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate - ARC of US: https://p2a.co/lRPDZ5C What Medicaid means to your family: https://action.thearc.org/3jLx90b

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  • Tell me your UnMet Need. CHCO ProMMiS!  Gut Paper with Citizen Health.  Rx Repurposing  - #S10e164

    Tell me your UnMet Need. CHCO ProMMiS!  Gut Paper with Citizen Health.  Rx Repurposing  - #S10e164

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, March 11, 2025 - Week 11

    CHCO Press Release

    https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org

    SYNGAP1 ProMMiS #SynGAProMMiS

    https://curesyngap1.org/resources/studies/syngap1-prommis/

    Need your Voice on Unmet Need

    Please contact me with stories and permission to share. Mike@

    PubMed is at 11 YTD

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

    Willsey Lab on Gut Motility, congratulations to Kate McCluskey

    https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf

    Citizen Health Data in there!

    https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3vCitizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

    Family Conf Video on Drug Repurposing

    https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl.

    Thank you Lindsay.

    Unravel BioSciences Discussion/Podcast

    Short: https://www.youtube.com/watch?v=xcB8pv2lKRI

    Long: https://www.youtube.com/watch?v=CYb0ghaRKm8

    LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl

    Bio-Repository and Roadshow Dates

    https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

    April 24-25th

    Nashville, TN

    June 14-15th

    Westminster, CO

    June 18-21th

    St. Louis, MO

    June 27-28th

    Phoenix, AZ

    July 10-12th

    Boston, MA

    July 18-19th

    Denver, CO

    July 19-20th

    Westminster, CO

    July 19-20th

    Windsor Locks, CT

    Sept/Oct TBD

    Philadelphia, PA

    Dec 4-5th

    Atlanta, GA

    Share glowing reviews of SRF on Great Non-Profits!

    https://www.cureSYNGAP1.org/GNP

    ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled. Time to go for ICD-11s.

    https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html

    DoD Funding

    https://umdf.org/cdmrp_cuts_action/

    #MEDICAIDCANTWAIT

    https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/

    Episode 164 of #Syngap10

    #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

  • RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163

    RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Friday, February 28, 2025 - Week 9

    Hope vs. Despair?

    Despair:

    NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share FDA Staffing Cutshttps://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/DOGE head who also doesn’t care

    https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/

    Hope:

    Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/Community https://curesyngap1.org/team/Global: https://syngapglobal.net/ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes

    Disability is Political

    Take it or Advocate?

    Taking it does not work.

    Advocate:

    SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/ELF https://everylifefoundation.org/Research America https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/ Alliance for a Stronger FDA https://www.strengthenfda.org/ Modern Medicaid Alliance https://modernmedicaid.org/about-the-alliance/

    Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391

    Responsibility to those who cannot or will not be here. 10% of Americans. 10k diseases, all chronic. Childhood. Do not have FDA approved treatments, no cures. Staggering Financial Costs aka Toxicities. Efforts to date have allowed for interventions that may still matter. We have invested so much.

    Episode 163 of #Syngap10

    #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

  • We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162

    We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162

    Tuesday, February 25, 2025 - Week 9

    ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week

    https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS

    SPRINT4SYNGAP - April 26, 2025

    Webinar: cureSYNGAP1.org/S4S25

    Guide: cureSYNGAP1.org/S4SGuide

    LEVERAGE ON OUR GRANTS

    #Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

    STUDY OF THE WEEK - Email [email protected]

    Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/

    Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

    IMPACT REPORT

    NL43 cureSYNGAP1.org/NL43

    ONLINE DID YOU KNOW

    We have a calendar now! https://curesyngap1.org/calendar/

    Brochure is updated: cureSYNGAP1.org/Brochure

    YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2

    COMPANY OF THE WEEK - Stoke & Biogen!

    STK ($0.45Bn) partners with BIIB ($20.5Bn)

    https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and

    #SpecialNeedsTRAVEL

    e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories

    Comments on YouTube are great, see this presentation by SRF’s Heather on travel
 https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V

    RESEARCH UPDATE

    There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 10 (Coller included) for 2025.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

    Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290

    VOLUNTEER SPOTLIGHT

    Toby and John Brimsek are tireless. Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/

    VOLUNTEER

    Join us: https://curesyngap1.org/volunteer-with-srf/

    CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

    REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/

    https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full

    SOCIAL MATTERS

    - 3,937 LinkedIn. https://www.linkedin.com/company/curesyngap1/- 1.28k YouTube. https://www.youtube.com/@CureSYNGAP1

    - 11.5k Twitter https://twitter.com/cureSYNGAP1

    - 46.6k Insta https://www.instagram.com/curesyngap1/

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 162 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161

    Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, February 11, 2025 - Week 7

    IMPACT REPORT IS OUT!

    Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/

    Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/

    STUDIES OF THE WEEK - BEACON DREEM

    https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/

    COLORADO CHILDREN'S HOSPITAL - April & May

    https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/

    STANFORD ARTICLE ON SYNGAP1 SEIZURES

    https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/

    Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175

    LinkedIn: https://www.linkedin.com/posts/curesyngap1_how-neural-insulation-can-amplify-epileptic-activity-7295282288462860288-mqke

    Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02cKdrA8FJJopumKZuQo55JafeCFjEPe5Kg2V1QpmJmJbqwNZ52Yfie4AfyeaZRAvul

    RESEARCH UPDATE

    There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 8 (but reall 9 if you count Coller) for 2025.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

    Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disabilityhttps://link.springer.com/article/10.1007/s10803-023-06162-9

    ADVOCACY SHOUT OUT

    Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/

    Learn from the greats:

    April 8 & 9 at St. Jude online

    https://stjudeptni.activehosted.com/index.php?action=social&chash=28dd2c7955ce926456240b2ff0100bde.111

    IN THE NEWS - Terry P on Kelly Clarkson Show

    https://www.youtube.com/watch?v=yLcm0KcgZyc

    FUNDRAISING MATTERS

    Aaron: https://giving.classy.org/campaign/661441/donate

    You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST

    CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

    VOLUNTEER

    Join us: https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 3,925 LinkedIn. https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 11,512 Twitter https://twitter.com/cureSYNGAP1

    - 47k Insta https://www.instagram.com/curesyngap1/

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 161 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160

    Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, February 4, 2025 - Week 6

    CONVO - Parent of 18 year old

    Travel now.Get meds under control fastDon’t do this aloneDon’t give up on the adultsFind doctors who want to learn and think, not dictate.

    STUDIES OF THE WEEK - FRAZIER

    https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

    Don’t underestimate this tool, please take part in this study.

    Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

    ADVOCACY SHOUT OUT

    https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios

    REGULATORY UPDATE - Feb 4 at 4PM EST.

    https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy

    EF on EPILEPSYInstagram - Facebook - LinkedIn - X

    RESEARCH UPDATE

    There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 7 (but really 8 if you count Coller) for 2025.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

    James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/

    VOLUNTEER SPOTLIGHT

    Aaron Harding is tireless

    Donate: https://giving.classy.org/campaign/661441/donateVideo - https://youtu.be/7LprhkhyU5I

    CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

    VOLUNTEER

    Join us: https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 11,550 Twitter https://twitter.com/cureSYNGAP1

    - 47k Insta https://www.instagram.com/curesyngap1/

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 160 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159

    Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, January 28, 2025 - Week 5

    STUDIES OF THE WEEK - ROCHESTER 3

    We need 3 more 0-2 Year olds.

    https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/

    NYU - CureSYNGAP1.org/NYU

    https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/

    Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

    STUDY HUDDLE on THURSDAY!

    1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU

    COMPANY OF THE WEEK - Minovacca

    SRF put Neuro on their radar and now they are building a company.

    https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery

    Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/

    REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/

    https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html

    PATIENT ENGAGEMENT IMPROVES OUTCOMES

    https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/

    RESEARCH UPDATE

    There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 4 (but really 5 if you count Coller) for 2025.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

    Huganir’s latest: https://pubmed.ncbi.nlm.nih.gov/39868300/Coller with the Poly-A is out: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531%2825%2900007-1Correction on China census paper, it was a review, we will not up the census.

    Note: Coller began working on SYNGAP1 with SRF support in 2022! See https://www.eurekalert.org/news-releases/966873

    VOLUNTEER SPOTLIGHT

    Deanna N. Rorie nee Farley. Longest running SRF Volunteer ever. Big thanks for all the Warriors.

    CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

    VOLUNTEER

    Join us: https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 11,565 Twitter https://twitter.com/cureSYNGAP1

    - 47k Insta https://www.instagram.com/curesyngap1/

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 159 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025

    SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    RESEARCH UPDATE

    There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 2 for 2025.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

    Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246!

    Check out these social posts on our https://cureSYNGAP1.org/SRFPaper

    https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJhttps://x.com/cureSYNGAP1/status/1879272983077781804https://fb.watch/x6KdWuLSA8/

    STUDIES AND TRIALS ARE HAPPENING NOWhttps://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

    FUNDRAISING

    Coast2Coast Challenge $359,280 Syngap.Fund/C2C FUNDRAISE https://syngap.fund/FR #Sprint4Syngap is launching
 https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

    VOLUNTEER SPOTLIGHT

    Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/

    CONFERENCE

    Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

    VOLUNTEER

    Join us: https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 1,260 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,906 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    - 11,670 Twitter https://twitter.com/cureSYNGAP1

    - 47k Insta https://www.instagram.com/curesyngap1/

    - 464 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 158 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • 2025 is the year we double down on SYNGAP1.  Tune in now. -  #S10e157

    2025 is the year we double down on SYNGAP1.  Tune in now. -  #S10e157

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Friday, January 10, 2025

    NEWS

    Census = 1,530! https://cureSYNGAP1.org/Censushttps://cureSYNGAP1.org/NL42All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24Pods, 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 longer one day, but this is soon and they need to get ready.

    Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/

    STUDIES AND TRIALS ARE HAPPENING NOWRochester, Eye Tracking, Sleep. Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up
https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

    FUNDRAISING

    Coast2Coast Challenge $338,280 Syngap.Fund/C2C FUNDRAISE https://syngap.fund/FR Go Nikolas! $3,780 https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser#Sprint4Syngap is launching
 https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

    VOLUNTEER SPOTLIGHT:

    Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/

    RESEARCH UPDATE

    There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 0 for 2025.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    CONFERENCE

    Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 1,250 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,899 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    - 11,688 Twitter https://twitter.com/cureSYNGAP1

    - 47k Insta https://www.instagram.com/curesyngap1/

    - 464 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 157 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

    AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, 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-m0OVhttps://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZhttps://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzFhttps://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESyhttps://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pqhttps://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrWhttps://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf

    Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25,

    https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification

    STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

    Two trials to consider

    https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25

    https://deepdeestudy.com/ list of sites: NJ & FL

    BONES

    https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0 https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/

    FUNDRAISING

    Coast2Coast Challenge $207,974 Syngap.Fund/C2C Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challengeFUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    VOLUNTEER SPOTLIGHT:

    Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/

    Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/

    RESEARCH UPDATE

    There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Latest are from Willsey & Frazier.

    Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1

    Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 1,240 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,883 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    - 11,739 Twitter https://twitter.com/cureSYNGAP1

    - 47k Insta https://www.instagram.com/curesyngap1/

    - 464 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Episode 156 of #Syngap10

    #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

  • Annie -  #S10e155

    Annie -  #S10e155

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, November 26, 2024

    Annie Passed yesterday #SynGAPAngel

    https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop

    SRF NEWS

    Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs

    Two trials to consider

    https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25https://deepdeestudy.com/ list of sites: NJ & FL

    Two studies we all need to sign up for

    Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/Citizen Health https://www.citizen.health/partners/srf

    Conference - Conference is 9 days away!

    Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

    FUNDRAISING

    Coast2Coast Challenge $152,592 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/MintedFUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    VOLUNTEER SPOTLIGHT: Stephanie Decker

    https://www.linkedin.com/in/stefanie-decker-cpa-38776696/

    ZOOM BACKGROUND

    https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 1,230 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,851 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,779 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 456 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 155 of #Syngap10

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

    Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Friday, 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/srfGrowing 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 familiesWe'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 GuzmĂĄn Cali, Colombia https://syngap.fund/Cafe

    4MTx Announcement and direct impact on pipeline

    https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebrhttps://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2

    RESEARCH UPDATE

    There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Latest is from Frazier!

    https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112

    Sign up for Frazier https://syngap.fund/eye2

    https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

    More Grants at work Science:

    Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEspBower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCOThank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/

    Conference - Conference is 18 days away!

    Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

    FUNDRAISING

    Coast2Coast Challenge $120,642 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/MintedFUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    VOLUNTEER SPOTLIGHT:Amber Mickler

    https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK

    ZOOM BACKGROUND

    https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    SOCIAL MATTERS

    - 1,220 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 154 of #Syngap10

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Progress in Studies, Trials & Community Milestones; Conference #S10e153

    Progress in Studies, Trials & Community Milestones; Conference #S10e153

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    STUDIES AND A TRIAL

    FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

    CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/

    PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/

    Science:

    Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/

    Conference - Conference is 1 month away!

    Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

    RESEARCH UPDATE

    There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories.

    https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long

    FUNDRAISING

    - Coast2Coast Challenge $92,754 Syngap.Fund/C2C

    - Missense Account of the Fund $25,940

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    - Charmander $10,585

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,347

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted

    Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/

    ZOOM BACKGROUND

    https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR

    CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    SOCIAL MATTERS

    - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 153 of #Syngap10

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

    The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, 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 PipelineGet regulators to approve trialsGet medical centers up to speed on SYNGAP1-Related Disorders (SRD)

    What we are building on

    CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/Rare-X platform for PRO collectionRegulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.

    What we are asking for

    We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)Make your largest gift ever to SRFFundraise with friends and familyACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us.

    Key slides: S1 Path to Treatment | 2024 (09.27.24)

    1. Why Now? Why is it time to go from bench to bedside (research to clinical)?At least 10 companies on our pipeline not to mention multiple small molecule effortsWe have limited resources – so the focus has to transition, clinical funding first.CHOP Gift is 1 year down
2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) Learn what to measure in clinical trials for SRD, remember our seizures are challengingIdeally we develop a Synthetic Control Arm if we use GCPWhy top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians. 3. Why Multidisciplinary.Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho.Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.4. Why Multisite/3 sites?Replicable/scalable required by regulatorsAccessibility (not primary reason)Establish more locations where trials will be managedLaying a foundation for a national self-sustaining network3 is the minimum, look at STARR or Angelman, both had/ve 4.5. How and why so fast?Because we can. Time is Brain.Following a well trodden pathSMA, Rett, Angelman, Dravet, but we are moving FASTER.6. Does the industry really care?We are next there are so so many behind us, eager to take the resources we have access to today.Market size (Per our Census 425 US/1500 global is tip of iceberg)Multiple players reassuring each otherRelatively strong amount of scientific and clinical researchHaploinsufficiency (like Dravet – STOKE) – so relatively easy7. Expensive?No. Clinical Research is more expensive than basic scientific research.Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials. It’s time.8. Why Bother/Help?Now is the time for SYNGAP1, we miss it at our peril.Sure, once in these places we will still see our patients, but the study, the support and the focus may pass.Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers.If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask.9. What can I do?Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical$500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters.This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours?Syngap.Fund/C2C

    https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge

    Two teams:

    https://Syngap.Fund/West & https://Syngap.Fund/East

  • Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151

    Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

    Census is at 1,497! Syngap.Fund/Census

    Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox

    - UFD Tech, $52,094

    - Scramble, $28,000

    Current Efforts:

    - Coast2Coast Challenge $42,691 Syngap.Fund/C2C

    - Missense Account of the Fund $23,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    - Charmander $10,585

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,173

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    ONLINE SHOPPINGS

    EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038

    Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/

    FRAZIER STUDY - Half enrolled!

    https://Syngap.Fund/Eye2 [email protected]

    CHOP is 1!

    - 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA

    - https://x.com/cureSYNGAP1/status/1843684785740255303

    School and Behaviour

    Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviorsDo you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox

    On the site

    Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffectSyngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox Syngap.Fund/InsWin Insurance with Sara Driscoll

    Vicky & Merlina are unstoppable

    SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18WColombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe

    Conference - Conference is 47 days away

    Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srfBook a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A

    Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin

    https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb

    MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study

    RESEARCH UPDATE

    There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG


    https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 151 of #Syngap10 - Friday, October 18th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

    FRAZIER STUDY

    https://Syngap.Fund/Eye2 [email protected]

    Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914

    SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing

    We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/

    Chronic Grief

    Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w

    Conference - Conference is 72 days away

    Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srfBook a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-ASponsor alongside Jones, Wieczrek and Graglia.

    PR out this week

    Lacoste (https://Syngap.Fund/PR28)https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/Devinsky (https://Syngap.Fund/PR29)https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/

    UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh!

    September 23 3:00 Eastern to Sept 30 noon. https://www.justgiving.com/page/ufd-2024https://www.youtube.com/watch?v=DtOyV2FNJ-s

    PRESS ABOUT FOF (Friends of the Fund)

    Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome

    RESEARCH UPDATE

    There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024! Now tied for 2nd place with 2009, but this year will be over 43, I’m certain.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Three papers to note:

    Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=falseRat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

    SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $23,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $8,173

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    Charmander $5,303

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,140 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,789 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,736 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 439 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 150 of #Syngap10 - Tuesday, September 24th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

    Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n149

    FRAZIER STUDY

    https://Syngap.Fund/Eye2 [email protected]

    SRD JOINS CFC #33321

    https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    PRESS ABOUT FOF (Friends of the Fund)

    Praxis https://firstwordpharma.com/story/5891543

    Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/

    RESEARCH UPDATE

    There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Three papers to note:

    Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE

    CHRONIC GRIEF

    We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families.

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!

    Smarts for Syngap - DC Trivia Night - Congratulations

    Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

    SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $23,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $8,147

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    Charmander $5,150

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients)

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,090 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,600 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 429 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 149 of #Syngap10 - Monday, September 9th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

    Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n148

    BACK TO SCHOOL 2024

    Push the schools to do better, at every turn.

    Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia

    STUDY

    https://Syngap.Fund/UB (Unravel Biosciences)3 forms to fill out, please let us know if you want to participate.

    PRESIDENT & COO SEARCH

    https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/

    RESEARCH UPDATE

    There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in 2024! Tied for 3rd place, but this year will be over 43, I’m certain.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID

    https://pubmed.ncbi.nlm.nih.gov/39148034/

    PRESS ABOUT FOF (Friends of the Fund)

    Fondo joins FECOR -

    ​​https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1

    JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues

    TJB -

    X https://x.com/JMGraglia/status/1825949467973136804L

    https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktopF https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl

    VOLUNTEER NEEDS

    Thank you Grants, Aaron & Sarah

    Fundraising and FinanceVolunteer! https://curesyngap1.org/volunteer-with-srf/

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/

    Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024

    Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $21,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $6,549

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    Conference Registration - 57 for Science Day & 66 for Family Day

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,744 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,375 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 420 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 148 of #Syngap10 - Wednesday, August 21th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • #SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

    #SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n147

    FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24

    SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing.

    https://curesyngap1.org/team/leadership-team/jackie-kancir/

    ADULT ADVOCACY

    SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult

    Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQkFoundation: https://colinfarrellfoundation.org/

    WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/

    LEVERAGE PARTNERS

    https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/

    Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/

    SCIENCE TEAM

    PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data

    PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis

    PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight

    PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel

    PROJECT FACILITATE - Tools and Reagents - Mice work in flight

    RESEARCH UPDATE

    There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024! We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers. I’ve seen multiple papers being submitted lately, it’a actually hard to keep up. LINK

    LATEST PAPER: https://www.eurekalert.org/news-releases/1053579

    WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/

    FUNDRAISERS!

    Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/

    3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb)

    Smarts for Syngap - DC Trivia Night - 24 Days!

    Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $21,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $6,449

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs)

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,168 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 418 TikTok https://www.tiktok.com/@curesyngap1

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Cafe Syngap1 #17

    https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811Episode 147 of #Syngap10 - Sunday, August 11th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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