SYNGAP10

Wednesday, March 26, 2025 – Week 13 #S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever.  Don’t miss it, or the comments.  Feel free to add to them!   One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia.  Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8   Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/ PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/    #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss   Getting to know our community: - Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories  - Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/ - Sibling Story with Kallen https://cureSYNGAP1.org/Sibling  - DW of SRF AUS https://www.facebook.com/reel/1345989426605772 - Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25   - Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24    PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf   This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen   Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3   Thank you for the 15 glowing reviews of SRF on Great Nonprofits! https://www.cureSYNGAP1.org/GNP   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,971 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,311 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,427 Twitter https://twitter.com/cureSYNGAP1 - 46k 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 167 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Tuesday, 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 and require constant vigilance and partnership with Neuros Medication changes can cause issues such at rage Long-term side effects, e.g., bone health issues, from chronic medication use Drug-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 frustration Elopement & 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/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ  CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698    Episode 166 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 

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

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-00206612 President 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 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 syngap-study@beacon.bio 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

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 Disability https://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

Tuesday, February 4, 2025 - Week 6   CONVO - Parent of 18 year old Travel now. Get meds under control fast Don’t do this alone Don’t give up on the adults Find 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/donate Video - 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