SynGAP10 weekly 10 minute updates on SYNGAP1 (video)

It'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/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ Amlexanox and Cool Science Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/ Inaugural New Family Webinar Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/  Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/   STUDIES - MATTER  ORTAS (need many, 27 signed up, 8 completed.) https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/  BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/   “Dear Families, This is a brief update on the Communication abilities in Children with Genetic Conditions study. The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions. We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available. With best wishes, Harriet and the Communication abilities in Children with Genetic Conditions study team.”   PRESS  JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/  Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/  Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/  Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/  NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45   FUNDRAISING Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/ MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate Liam https://donate.curesyngap1.org/campaign/696438/donate Story https://donate.curesyngap1.org/campaign/695981/donate   Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate   Pubmed is at 24 (so less than one a week…) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc   Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068    Cunnane DCM is out and Ingo noticed! https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/  She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA    SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/    SOCIAL MATTERS - 4,185 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,380 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,314 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://cureSYNGAP1.org/SRFApple   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    Episode 173 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Sunday May 18, 2025. Week 21   Show notes on the site: https://curesyngap1.org/podcasts/syngap10/    CAMP4 Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl    To get these Therapies to kids the NHS data is key, ProMMis CHOP - Email them ENDD@chop.edu Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/ Citizen Health https://cureSYNGAP1.org/Citizen is at 267, why not 300?   Hopkins article featuring SRF - Competition is good for the patient FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl LI https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB   ASGCT Mouse poster for Q504X from the JAX, Dr. Matt Simon Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY  Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan   What about this guy? Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU&smid=url-share  PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo   More incredible news https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge   REPURPOSING Mike's post in private SRF Group: https://www.facebook.com/groups/syngap #Amlexanox with Fortuity Pharma. https://fortuitypharma.com/    Butyrate Update https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper. SunButyrate https://a.co/d/7kiHXS8    PUBMED  328 total with 20 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub   SRF Fundraisers MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/   Well done to Tavilla and Jones!  We are over $221k Tavilla clears $160k for Sprint. https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255   Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated.  Amazing and thank you to Krispy Kreme.  https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677   SRF PROFILES Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P Vicky's Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/ Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior   PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

Email: Ilakkiah.Chandran@uhn.ca about this study!   Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.   All our kids will turn into adults and if you think people don't understand our kids, wait till they turn into adults!  It's worse.  There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important.  BTW, soon we will have treated and untreated!     Dr. Andrade and her team are the best in the world.  Dravet/SCN1A is “the one”   Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults… https://pubmed.ncbi.nlm.nih.gov/33677403/ https://pubmed.ncbi.nlm.nih.gov/28186331/ https://pubmed.ncbi.nlm.nih.gov/22780858/   She's even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/   We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/.  Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8   CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/   So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same.  So… this is our moment.   Please let us know how we can help you to finish these questionnaires: info@cureSYNGAP1.org    Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

Friday, April 25, 2025 - DNA Day Good luck at Sprint tomorrow.  $194k at this moment.   WODC Readout Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E) RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar. (Other  Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)   Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and broad (Tevard). ASO Update: Trials need heterogenous populations.  At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons.  Once approved, or in subsequent trials, I assume it will be available more broadly but not at first.  Trials are coming, take notes and videos. Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDn Oliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/ Sign up for the conference: 222 Days! https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkv Effie on TJB https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1   CB Blood Drive this weekend in TN.  Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

Tuesday, April 15, 2025 – Week 16   CURRENT NEWS #Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas!    Board Announcement: https://www.eurekalert.org/news-releases/1080490   LEARNING ABOUT SYNGAP1 ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.   Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674 YT https://youtu.be/VBWa0FklYJs   Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/   Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A  For instance, these won't repair, but they will will upregulate... = make work harder. MORE NEWS In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla! https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/   SIBLINGS Tell your story, please for the other ones. https://curesyngap1.org/syngap-siblings/shanaye-worth/ https://curesyngap1.org/sibling-support/   PUBLICATION COUNT PubMed is at 17 YTD, 325 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   SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 4,009 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,369 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://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 169 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, April 9, 2025 – Week 15   Condolences to the Brimsek family and thank you John & Tobi for all your support.  We just shared an interview with our board member and John's son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories    Trip Report, two crazy days.  Many takeaways.  Trials may be coming soon.  If there is a trail, sign up.  Every time. khuba@jcu.edu    Do the Frazier Study and do the follow-ups!  https://curesyngap1.org/eye2 Global as well.  Australia, UK, Canada, please help.   We are busy too!  DiMe announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU    Census is 1,581!  https://curesyngap1.org/blog/syngap1-census-2025-update-q1/   Impact report has a webinar! https://cureSYNGAP1.org/Impact    Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44   Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill    We have one space available in Colorado on May 20, 2025, email Lauren@curesyngap1.org to sign up.   Other blog about the CB Roadshow, please join us there https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/   And the Polish Community speaking out about ASO trials: https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/   #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $66,383 https://www.youtube.com/watch?v=IW7owIsdjss   Bowie - Our funding goes far: https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181    Also see this from CZI, featuring SYNGAP1 in Dr. Willsey's work https://www.czbiohub.org/life-science/unlocking-biology-autism/   PubMed is at 17 YTD, 324 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   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,996 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,391 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 168 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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-ng3v Citizen 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-rcna191744 NYT 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 Cuts https://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/   CONFERENCE Pre-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   CONFERENCE Pre-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 EPILEPSY Instagram - 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   CONFERENCE Pre-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

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%2900007-1 Correction 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.   CONFERENCE Pre-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

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-XTGJ https://x.com/cureSYNGAP1/status/1879272983077781804 https://fb.watch/x6KdWuLSA8/   STUDIES AND TRIALS ARE HAPPENING NOW https://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

Friday, 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 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 NOW Rochester, 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

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-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/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-challenge FUNDRAISE 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

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 14-25 https://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/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday 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/Minted FUNDRAISE 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/id6464522917 Episode 155 of #Syngap10  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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/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://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-bjebr https://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/CHOPEsp Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO Thank 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/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday 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/Minted FUNDRAISE 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/id6464522917 Episode 154 of #Syngap10  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday 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/id6464522917 Episode 153 of #Syngap10  #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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 Pipeline Get regulators to approve trials Get 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 collection Regulatory 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 SRF Fundraise with friends and family ACES 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 efforts We 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 challenging Ideally we develop a Synthetic Control Arm if we use GCP Why 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 regulators Accessibility (not primary reason) Establish more locations where trials will be managed Laying a foundation for a national self-sustaining network 3 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 path SMA, 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 other Relatively strong amount of scientific and clinical research Haploinsufficiency (like Dravet – STOKE) – so relatively easy 7. 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

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

Full show notes: https://syngap.fund/n142    BIG NHS UPDATE 66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled. Colorado should start seeing patients in August! WHERE TO DONATE MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite   BLOOD: June 7 & 8, Loews Coronado Bay Resort, email CSO@cureSYNGAP1.org TIME TO JOIN #TEAMSRF  - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community   - https://curesyngap1.org/volunteer-with-srf/    CHATS WITH INDUSTRY  - Is IT delivery a blocker for precision therapies, NO!  - 2026 is feeling like the earliest we see trials.  - BIO with Kathryn next week! CALENDAR MANAGEMENT Rare Across America is 66 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 188 days away: https://curesyngap1.org/events/conferences/syngap1-conference-2024/   PUBLICATION ALERT https://x.com/cureSYNGAP1/status/1795837761678962799    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,020 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 10,000 Twitter https://twitter.com/cureSYNGAP1  - 3,591 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 142 of #Syngap10 - May 31, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week:  https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.   MDBR is 3 weeks away! https://Syngap.Fund/Unite   $5k match https://x.com/phalliburton/status/1792288377049415835   It's all about therapies.  Precision Genetic and Repurposed.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week I was at Milken Global.  All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program  - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.  - ASGCT was last week and that means announcements…  - Kathryn and I are off to BIO in June in San Diego.   Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX  Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y  Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO  Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ   Repurposed therapies are just as important.   Cost effective.  Globally available. They are here now.  We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials.  And to even suggest that is unethical if it suggests people should hold off on helping patients.  How about we just diagnose more kids?  Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.   Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction.  I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx.  I am hopeful that some researcher does an investigator led trial.  But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action.  Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating.  Please share data with us if you are trying.  We are collecting case studies for Update 3.  Thank you to the team here.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,010 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 9,900 Twitter https://twitter.com/cureSYNGAP1  - 3,560 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Read Jackie's article on profound autism, be grateful she is an SRF Leader. https://helenjournal.org/april-2024/achieving-equity    Watch Brett's 2 min talk on his son, he's on your team too. https://x.com/UFDTech/status/1785111914168594894    Look at all these families that raise a quarter million dollars via #Sprint4Syngap 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ  - $243k, 844 donors  - Kaia's event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef's family also found connection by helping SRF, video coming soon.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/  - Next week I'll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program It takes a village.   We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow.  The more we unify, the faster it grows.   v1 Drugs - Data - Biomarkers & Endpoints v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS  - 990 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,552 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1  - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 140 of #Syngap10 - May 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139 Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE) SRF is the same: - Raise Funds to Change the Future - Volunteer, contribute to a larger effort - Connect with other families - Share our experience to make broader knowledge - Learn from each other and scientists Raise Funds #Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ  - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd   - $197k, 521 donors  - See you Saturday, enjoy it.  - It's a get to, people get to support our incredible efforts. Volunteer ACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez  - State Reps - May 3rd!  - Advocates - Jackie Kancir and Jess Johnson are killing it.  - Many other roles   - DEI too. Connect with other Families  - Jaxon Movie is up https://curesyngap1.org/resources/movies/  - Sprint events. Volunteer. Etc.  - Hope drove across the country   Fundraiser https://givebutter.com/zDUIfN   Reel https://www.facebook.com/reel/421525020629131    Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28 Share our experience to make broader knowledge  - FB: www.facebook.com/groups/syngap/   - CHOP is at 99! endd@chop.edu   - Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8 Learn from each other & scientists  - https://curesyngap1.org/podcasts/cafe-syngap1/   - Coming soon: Missense Server is Awesome, Frogs too.  - NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/  - Remember new families have resources too! https://syngap.fund/Resources  I'm learning too!  Just accepted to #LeadersLink of #FasterCures!  - Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures   - X https://x.com/JMGraglia/status/1782778094589460812   - LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX SOCIAL MATTERS  - 979 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,529 Subscribers on LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 139 of #Syngap10 - April 23, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

TOGETHER WE ARE STRONGER  - 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/  - Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”   - Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001   WELCOME AND CONNECT  - New parents are coming fast, reach out to them, tell them how much hope to have.  - Connect, connect, connect.   - San Diego next week: https://curesyngap1.org/resources/movies/jaxon/   - Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ - TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo   TEAM IS GROWING  BOARD - https://www.eurekalert.org/news-releases/1038978  CSO - https://www.eurekalert.org/news-releases/1040061  COO - You?   PRESS  - UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/  - GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/    What does my genetic report mean?  We wrote a blog, but as I've had this conversation a few dozen times, my answer is simpler now.  Is it missense or is it truncating?  If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower). Who else has it?  Look on ClinVar and call SRF. Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/   STUDIES https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/  CHOP: ENDD@chop.edu  Adults:  - Press Release: https://www.eurekalert.org/news-releases/1040062  - Study Info:  https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view  QOL: https://Syngap.Fund/QOL24 39 and counting.   #Sprint4Syngap 2024 Total: $168,572 from 347 people Tavilla: $126,385 from 62 Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn. https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ   REPURPOSING  - NAL, blog coming.  - Ravicti, enrolled, and blog on Butyrate coming.  - Nortriptyline, has been game changing, discussing a larger trial.   REFLECTIONS  - Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla  - Homeschooling… again, avoid the kneejerk.  See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE    - Tony update.  Grateful and grieving.   SOCIAL MATTERS 967 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  3,483 Subscribers on LinkedIn.  https://www.linkedin.com/company/18940628/admin/feed/posts/ Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 138 of #Syngap10 - April 4, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)    Stoke Therapeutics #StokedAboutStoke Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential  I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706  This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew    Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11    Longboard Pharma  https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial    Studies https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/  CHOP: ENDD@chop.edu  Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view  QOL: https://Syngap.Fund/QOL24       Fundraisers 247 supporters have us at $79k Team Tavilla is over half of that at $47k Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn. Rifton bike for S4S anyone at $500+.  247 Supporters! https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ   Social Matters 953 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 137 of #Syngap10 - March 26, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Do 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. Butyrate. Nortriptyline. Acetylleucine.   Sprint4Syngap is our current fundraiser, get in there and join us! https://curesyngap1.org/events/featured/sprint4syngap-2024/  https://givebutter.com/ALjJXJ  Sprint4Syngap Total: $33,704. Tavilla Total: $6,695   Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 136 of #Syngap10 - March 16, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

DC was epic, come next year! - Board Meeting and Leadership Team. - Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!   https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l - Last week of Feb, don't miss it.   #RareBrewCoffee has launched! https://rarebrewcoffee.com/ use code SRF10   Reflecting on the latest Rick Huganir paper - This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year. - We are not a Rasopathy!  https://x.com/cureSYNGAP1/status/1763644994685153654?s=20  - We need to have Prof. Huganir do a webinar!   #DEI #SyngapWhileBlack Nice work Petersen family https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/   State Coordinators and Advocates Sign up - We're looking for state representatives and state advocates - fill out this form if you're interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform - Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories   We still do warriors, 198 is from Poland! - https://x.com/cureSYNGAP1/status/1763006900939956252?s=20 - https://curesyngap1.org/syngap-warriors/igor/ - Are you are warrior yet? https://curesyngap1.org/syngap-warriors/   Repurposing - Thought for the week - When you try a new molecule, any new molecule, take notes, videos and pictures.  - IF a drug increases cognition, expect frustration, at first. - Make sure you watch episode 134, even if it's long because I really go deep on repurposing.  https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z    Notes, all on Youtube, make sure you subscribe there - 935 today let's get to 1,000 https://www.youtube.com/@CureSYNGAP1   List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ  Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs  Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/   Siblings - Order a kit, thank you UCB @UCBUSA  https://curesyngap1.org/sibling-support/   Ed's notes: - Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY - Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children's Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view - Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/   Scholarship - UCB USA Family Epilepsy Scholarship    - Blog - https://Syngap.Fund/UCB24    - Diagnosed with Epilepsy or immediate family member or caregiver    - Seeking higher education    - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view    Fundraising - Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24  https://www.rifton.com/  (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year's record.) - MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/  - S.Carolina3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/  - 3rd SYNGAP1 Conference, hosted by SRF in LA    - Pre-register to receive updated info when it's ready https://Syngap.Fund/24Pre    - Planning committee needs volunteers; if interested in helping, contact stacey@curesyngap1.org #SyngapConf   Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 135 of #Syngap10 - March 3, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200!   Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A    The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.   Repurposing:  Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we've realized that we don't like him”. Very harsh but very real to say”   Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38   List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ  Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs  Fycompa® (perampanel) - Need to have a webinar on this.   Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone.  Wow.   Ethics. Is it ethical to sit back and let our kids suffer?   Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen!  Thank you to those working on CZI grant too!   Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html   Ed said: Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24  https://www.rifton.com/  (9 teams signed up as of 2/23 - we had 28 teams in 2023;) Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj)  Added to Paulina's blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/);  Videos include Science Day Recap as well as a separate video of Mike's recap on “Where are we now?”, a summary of how parents can prepare for what's coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F). SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact stacey@curesyngap1.org #SyngapConf SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ Addison's Warrior Story - https://curesyngap1.org/syngap-warriors/addison/ We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you're not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/ Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20 We're looking for state representatives and state advocates - fill out this form if you're interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources State Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)   Upcoming Rare Disease Day - join us in DC; two blog posts:Rare Disease Day 2024 - what is it and how can you help SYNGAP1? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Fundraising Getting organized:MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/  2nd annual Golf Tourn in Canada 6/8 CFTC early-mid Sept? Link to past events is here:  https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/  3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/  4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here:  https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it's ready https://Syngap.Fund/24Pre   Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 134 of #Syngap10 - Feb 24, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

A. 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)  - https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021) G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders H. SYNGAP1 Syndrome - ICD-11  - https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024) My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD). These monogenic disorders are anything but monolithic. Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003) A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome. NDD vs DEE - We are a DEE “Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.” https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917  This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818  Episode 133 of #Syngap10 - Feb 13, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

TWO Gene therapy INDs approved in the past week! JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/ ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/    Mike's Gene Therapy Cheat Sheet https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing    TAKE THE ROCHESTER SURVEY https://redcap.link/NDDCaregiverSurvey    SPRINT FOR SYNGAP24 is on! https://Syngap.Fund/Sprint24   APARITO ANNOUNCEMENT LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/ X - https://x.com/cureSYNGAP1/status/1751969751621046667 FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl   This is the program: https://www.aparito.com/patient-group-programme/   RAVICTI GROUP https://www.facebook.com/groups/butyrate/   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 132 of #Syngap10 - February 6, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

SYNGAP1 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 can help by supporting the studies I mentioned in #S10e128   1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey   2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca   3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu   4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!   5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.   6 - Texas: QEEG at Cook Childrens.  Email Corey. All studies are on https://curesyngap1.org/studies/    REPURPOSING Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention.  We have a hit from Chow that we are validating.  Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here. Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_  Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm   I'm heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha.  https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv   New Things to Know about!   CHANGES STUDY New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view All Studies: https://curesyngap1.org/studies/   UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24 Application deadline March 15 Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/   New blog about our YouTube channel & what you'll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago   Rare Disease Day What is Rare Disease Day & why is it the last day in February? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill   Fundraising Get Ready for Sprint - save the date 4/27/24 Getting organized: MDBR 6/8 2nd annual Golf Tourn in Canada 6/8 3rd annual Scramble 10/5 4th annual SRF Gala honoring Caren Leib 10/18 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it's ready https://Syngap.Fund/24Pre New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 131 of #Syngap10 - January 23, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

All week on an article (coming soon), but still time to… Meet a couple of new parents, hi Stacey Miller.  Conf planning for LA is ON!  Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/  See Corey's trip to NYC.  You need countable seizures to participate.  Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8  Talk to STXBP1 about Natural History Studies.  This is something we need to think about together.  e.g. a consensus protocol could save us a placebo arm. PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/    Ed's been busy!  Cafe Syngap Episode 8 went live  https://curesyngap1.org/podcasts/cafe-syngap1/   Conference Family Day Recap by Paulina Polanco https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/   Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they'll all be added to the blog as well as on YouTube https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD   Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view   CHOP/ENDD (need 50 more) https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view   Newsletter #36 out Saturday AM Jan 6  https://mailchi.mp/syngapresearchfund.org/2023recap   Resolutions for 2024 https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit   Attend a conference or two (pre-register for Los Angeles) https://curesyngap1.org/events/conferences/syngap1-conference-2024/   Write a blog, make a movie, share your Warrior's story, be a guest on Stories or Cafe (contact AFrye@curesyngap1.org or Merlina@curesyngap1.org)   Upcoming Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT Rare Disease Day - join us in DC; two blog posts:   What is Rare Disease Day & why is it the last day in February? https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/   You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/   Sign up for the studies I mentioned in #S10e128   1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey   2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca   3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu   4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!   5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.   6 - Texas: QEEG at Cook Childrens.  Email Corey. All studies are on https://curesyngap1.org/studies/   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 130 of #Syngap10 - January 12, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67.  Here is the data: https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data   Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment.  Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/   Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week!  (But it's never linear.) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate Guess what the first pub in 2024 is about, CBD! https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857   This reminds me of a crazy story I heard this week, I need to share: Dr. won't add Clobazam Dr. pulled rec for CHOP with silly argument, Why he was wrong:QEEG is different Experts are experts and too few IRB approved studies gather data in a consistent way and help identify endpoints.   Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/   Tony Update, 10 tomorrow. It's been a rough year MVSD has failed spectacularly All the schools are full and the one that wanted to grow, can't.   Sign up for the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu 4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens.  Email Corey. All studies are on https://curesyngap1.org/studies/ (edited)  Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 129 of #Syngap10 - January 5, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128   A few studies to make sure you are in over the holidays!  One brand new! NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh! USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP. Texas: QEEG at Cook Childrens.  Email Corey. All studies are on https://curesyngap1.org/studies/    Research Matters: Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024! 43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate    Fundraising - Let's get to $2M! Give Up Your Cup - https://Syngap.Fund/GUYC23 Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper    Reminder on resources: Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/ Tell your Warrior Story - Deanna@curesyngap1.org Volunteer - https://curesyngap1.org/volunteer-with-srf/ New Sibling Page - https://curesyngap1.org/syngap-siblings/   Great Press Lately - Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/ Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/ More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/ Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html    Pods to catch up on! Cafe Syngap1 Episode 7 is live! https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895    The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 128 of #Syngap10 - December 22, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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 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://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx   12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/   Dream Team https://www.linkedin.com/in/nashafitter/ https://www.linkedin.com/in/faridvij/ https://www.linkedin.com/in/elli-brimble-82774798/ https://www.linkedin.com/in/deven-mcgraw-6650285/   Hope for Harper is still going, help us meet the $15k match! https://syngap.fund/harper  https://givebutter.com/uNxleH   The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Today a SYNGAP1 patient was dosed with 4PB.  Thank you Dr. Grinspan!   Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org    Finances, we have two years of audited financials on https://curesyngap1.org/finances/    There are two reviews of the SYNGAP1 Conference and one of AES you need to read  S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/   S1 https://www.draccon.com/dracaena-report/syngap2023    AES https://www.draccon.com/dracaena-report/aes2023     End of year Giving is afoot!  Give up your cup https://givebutter.com/Iuwfzd    Albrecht Match https://givebutter.com/uNxleH  aka Syngap.Fund/Harper  General Giving https://curesyngap1.org/donate/    Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca    Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date! https://www.eurekalert.org/news-releases/1006753   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 126 of #Syngap10 - December 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ICD-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.   Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca    Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123   Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23 #SyngapConf https://Syngap.Fund/RT23   To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando! FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018   Bravo to Jess Johnson & EAN https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/    Amazing paper out from USC https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/    Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Three Todos: 1 - Come to the #SRFconf and be sure to buy dinner tickets! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund  2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz 3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   EEGS MATTER To get an EEG Biomarker, you need to collect EEGs.  Not simple. This eg from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997) https://www.sciencedirect.com/science/article/pii/S2667174321000380 Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1   SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud) Where's our paper?   Beacon Biosignals is a company we know: https://beacon.bio/   You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you. https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html    EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images).  Check out Tony's https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat