Podcasts about newly diagnosed

Wednesday, October 1st, 2025. Week 40.   SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht.  Our code is F78.A1 Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed   Why does it matter and where are we now?  It helps us find patients and it helps doctors and companies find YOU.  We  aren't where we should be.   Dr. Lal's sobering post: https://www.linkedin.com/posts/dennis-lal-71a8988a_raredisease-epilepsy-precisionmedicine-activity-7373307411383857152-dQS0   Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdf   TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated genes, and code implementation dates. Syndrome ICD-10 Code Gene Effective Date21 Rett syndrome F84.2 MECP2 10/01/2015 Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020 Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020 Dravet syndrome G40.83 SCN1A 10/01/2020 SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021 MED13L syndrome Q87.85 MED13L 10/01/2023 Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023 SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024 KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024 Kleefstra syndrome Q87.86 EHMT1 10/01/2024   5 Conclusion Syndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances.   Who else got them?  New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html #FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code #Kabuki Q87.0 #USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3  #CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC  #SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/ #CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5  #SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ #STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code  #DLG4 QA0.0149 #Usher H35.5   CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/   CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing    Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/   REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codes   EVENTS! Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451 Conference on Dec 4 & 5 in Atlanta, don't miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355   CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/   SOCIAL MATTERS - 4,376 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,450 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,285 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 185 of #Syngap10 #CureSynGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

What happens when a very public author and journalist decides to tell their audience that they now have Parkinson's? In this powerful episode we meet Annmarie O'Connor, long time fashion editor of the Irish Examiner. Diagnosed in her 40's, join us as Annmarie looks back at the decision to go very public about her journey with Parkinson's.To learn more about Annmarie and her new book, Twitch, click here (https://annmarieoconnor.me/)

In this episode, I'm thrilled to sit down with Amy Stow, Head of Operations at Shift.ms, to talk all about the power of MS peer support and the Shift.ms Buddy Network. Amy shares how their innovative Buddy Network pairs newly diagnosed MSers with experienced peers, helping to reduce loneliness, boost confidence, and provide essential emotional support. We also discuss how to access the Shift.ms app, what to expect from a buddy match, and why connecting with others is so vital for your mental health and quality of life with MS. Whether you're looking for MS support groups, reliable MS resources, or simply want to hear inspiring MS stories, join us for this encouraging conversation designed to empower your journey with multiple sclerosis! About Amy Stow: Amy currently works as the Head of Operations at Shift.ms, a digital charity that provides peer support to young people with Multiple Sclerosis. She has worked in the third sector for 16 years, with 8 of those in the heritage and museums sector. Amy's particular skill set is in volunteer management/community engagement, strategy, income generation and human resources. Amy understands the needs of bringing together disparate communities, and champions the benefits of volunteering in reducing loneliness and isolation. Resources mentioned in this episode: shift.ms app - https://shift.ms/ Email- hello@shift.ms Additional Resources: https://www.doctorgretchenhawley.com/insider Reach out to Me: hello@doctorgretchenhawley.com Website: www.MSingLink.com Social: ★ Facebook: https://www.facebook.com/groups/mswellness ★ Instagram: https://www.instagram.com/doctor.gretchen ★ YouTube: https://www.youtube.com/c/doctorgretchenhawley?sub_confirmation=1 → Game Changers Course: https://www.doctorgretchenhawley.com/GameChangersCourse → Total Core Program: https://www.doctorgretchenhawley.com/TotalCoreProgram → The MSing Link: https://www.doctorgretchenhawley.com/TheMSingLink

Sunday, September 7, 2025. Week 37. Why does CURE SYNGAP1 aka SRF matter?  Do PAGS make a difference? Heck yes. Empower Families - Support.  Educate.  Activate.  Coordinate. Use Money Catalytically - Tax advantage.  Pool.  Manage.  Make Catalytic.  Focus.  Manage. Partner with Science & Medicine - Push forward.  Connect efforts.  Focus on Tx.  Work in Clinic. Leverage Ecosystem.  Industry.  PAGs.  Superpags (CB, GG, ELF). Ensure Continuity.  Our kids will outlast us.  Our energy wanes.  Life happens.  Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD. Because you VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/    Gala video: Look at those faces.https://www.youtube.com/watch?v=d6dCSBq27Gc   Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25   Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

Featuring an interview with Ms Charise Gleason, including the following topics: Progress and change in the management of multiple myeloma (MM) (0:00) Patient- and disease-specific factors guiding therapeutic decision-making for newly diagnosed MM (5:11) Role of anti-CD38 antibodies in the management of MM (12:14) Emerging treatment options for smoldering myeloma (23:08) Optimizing long-term outcomes for patients with MM (25:38) Tailoring therapy for older adults and patients with preexisting comorbidities (29:59) Case: A woman in her early 80s with newly diagnosed transplant-ineligible MM who experienced a complete response with first-line daratumumab/lenalidomide and low-dose dexamethasone (34:34) Case: A man in his early 60s with progressive back pain from standard-risk MM who experienced a complete response with daratumumab with lenalidomide/bortezomib/dexamethasone (42:05) Building therapeutic relationships and integrating holistic care in oncology practice (47:13) NCPD information and select publications

Ms Charise Gleason from Emory Healthcare in Atlanta, Georgia, discusses the evolution of first-line therapy for patients with multiple myeloma. NCPD information and select publications here.

Featuring an interview with Prof Xavier Leleu including the following topics: Introduction: Historical treatment advances in multiple myeloma (MM) (0:00) Contemporary treatment for patients with newly diagnosed MM who are eligible for transplant (13:18) Prognosis and life expectancy for patients with MM (19:39) Mechanistic differences among anti-CD38 monoclonal antibodies (27:05) Routes of administration of anti-CD38 monoclonal antibodies (30:21) Background and treatment of smoldering myeloma (41:05) Treatment for older patients with newly diagnosed MM who are not eligible for transplant (46:41) NCPD information and select publications

Prof Xavier Leleu from Poitiers University Hospital in Poitiers, France, discusses nursing considerations in the treatment of newly diagnosed multiple myeloma. NCPD information and select publications here.

Interview with Dorianne Eaves, PsyD

Friday, August 29th, 2025. Week 35. 5th Annual Gala was a great success! cureSYNGAP1.org/Gala5 Sad to miss it?  Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA!  Hi Dr. Knowles! We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM #Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025). The full results of the open label extension (OLE) of the Phase 1b/2a PACIFIC trial investigating bexicaserin for the treatment of patients with Developmental and Epileptic Encephalopathies (DEEs), will be presented for the first time at the International Epilepsy Annual Congress   Bexicaserin, which has been granted Breakthrough Therapy designation by the FDA, demonstrated reductions in countable and total motor seizure frequency in the extension study comparable to reductions seen in the Phase 1b/2a PACIFIC trial, reinforcing durability of response and validating its progression to Phase 3 trials.   Additional data will be presented from the audiogenic seizure model and the GAERS absence epilepsy model, investigating sudden unexpected death in epilepsy (SUDEP), and seizure reduction respectively.   During the OLE, a median reduction of 59.3% in countable motor seizure frequency was observed, with 55% of participants experiencing reductions of ≥50% compared to the baseline before the PACIFIC trial.   This trial, EMERALD and other studies all at https://curesyngap1.org/resources/studies/   See and comment on Vicky's recent post on her 7 year SYNGAP1-iversary: https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM    Join Citizen Health, we are at 275!  We should double that. https://www.citizen.health/partners/srf   DSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN.     CFC Starts on 9/1 https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/  

Friday, August 22nd, 2025. Week 34. The 5th Annual Gala is happening now!  https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ cureSYNGAP1.org/Gala5   Sad to miss it?  Join us in Boston or South Carolina. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026! https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results 12 Aug 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP-1 in 2026. SYNGAP-1 is a severe and rare genetic neurodevelopmental disease.”   Just over 20 FDA approved Oligos and siRNAs today.  We are still so early. https://www.advancingrna.com/doc/moving-beyond-solid-phase-synthesis-the-momentum-of-oligonucleotide-manufacturing-0001   Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable. https://www.grannpharma.com/press-releases The SYNGAP1 Village: How Extended Family Can Provide Vital Support https://curesyngap1.org/blog/syngap1-village-extended-family-can-provide-support/   Here's a fun topic to discuss with your family, brain donation.  https://www.autismbrainnet.org/ 55yo with Dravet, lots of insights, Brava to Dr. Andrade and team! https://onlinelibrary.wiley.com/doi/10.1111/epi.18613   SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts. 8/20/25 Letter can be viewed in SRF Public-facing drive  https://drive.google.com/file/d/1HHmCAuRYAQxb_1DtMtkQTz3H8__g9zKq/view?usp=drive_link Philadelphia Inquirer picked up the story 8/20/25  https://www.inquirer.com/health/medical-research-institutions-reject-nih-cuts-20250820.html    More on #Elopement: Alarms, Roofs, Resonated.  Keep talking to doctors about this.  Post is up to 139 Votes, percentages little changed,  join the conversation on FB. https://www.facebook.com/groups/syngap/posts/1734514154096968/ #S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY    Conference is in 103 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/   Pubmed is at 38! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc   SHARE BLOOD TO THE SRF BIOBANK AT CB! https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/    SOCIAL MATTERS - 4,285 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,294 Twitter https://twitter.com/cureSYNGAP1  - 46k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 179 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Have you ever been casually told about a serious medical diagnosis you didn't even know you had? That jarring experience is just one of the many challenges we explore in this heartfelt conversation about navigating life after receiving a chronic illness diagnosis.We kick off by catching up on our summer experiences and current health challenges – from mysterious hip pain and shoulder inflammation to surprising diagnoses and upcoming surgeries. Each of us shares the reality of living with unpredictable bodies that sometimes feel like they're working against us rather than with us.One particularly powerful thread running through our discussion is the frustration of medical miscommunication. When doctors casually mention conditions they assume you already know about, or when diagnoses remain buried in medical charts without proper explanation, patients are left feeling confused and unsupported. We offer practical solutions for taking control of your healthcare journey, including using symptom tracking apps and preparing thoroughly for appointments.The conversation takes an inspiring turn as we explore the transformation from merely surviving with chronic illness to genuinely thriving. Andi & Linnea share the journey of intentional self-care, mindful stress management, and learning to work with the body rather than against it. This shift in mindset doesn't happen overnight but represents a crucial evolution in living well with chronic conditions.We proudly share our recently published books – interactive guides designed to support others on their chronic illness journeys with journaling prompts, affirmations, and creative exercises. These personal projects reflect our commitment to creating resources we wish we'd had when first diagnosed.Whether you're newly diagnosed or years into your chronic illness journey, this episode offers validation, practical advice, and the reminder that you remain a whole person worthy of compassion and joy, regardless of your medical conditions. Your diagnosis may change aspects of your life, but with the right support and mindset, you can create a meaningful life beyond the limitations of illness.Osteoarthritis Webinar with ANRFWebinar Registration - ZoomSo, You're Newly Diagnosed: https://amzn.to/44FphaImperfectly You:https://amzn.to/4mgV5sCRedefining Fine: https://www.Send us a text Are you living with a chronic illness and want to make your voice heard? Rare Patient Voice connects patients and caregivers with research opportunities—so you can share your experiences and get paid for your time! Your insights help drive real change in healthcare.Let's Get Started - Rare Patient Voice Support the showSupport:https://rarepatientvoice.com/Myspooniesisters/https://www.etsy.com/shop/MySpoonieSistershttps://www.graceandable.com/?bg_ref=980:nzTyG6c9zK (Use code GAJen10) Website: https://myspooniesisters.com/ Discount Codes: GIANT Microbes | Gag Gifts, Teacher Gifts, Doctor Gifts, Gifts for Girlfriends and Boyfriends code SPOONIE20 for 20% off

Drs Joseph Mikhael and Saad Usmani discuss why quadruplet therapy is now the new standard of care for treating newly diagnosed multiple myeloma patients. Relevant disclosures can be found with the episode show notes on Medscape https://www.medscape.com/viewarticle/1002714. The topics and discussions are planned, produced, and reviewed independently of advertisers. This podcast is intended only for US healthcare professionals. Resources Daratumumab, Bortezomib, Lenalidomide, and Dexamethasone for Multiple Myeloma https://pubmed.ncbi.nlm.nih.gov/38084760/ Isatuximab, Lenalidomide, Dexamethasone and Bortezomib in Transplant-Ineligible Multiple Myeloma: The Randomized Phase 3 BENEFIT Trial https://pubmed.ncbi.nlm.nih.gov/38830994/ Daratumumab Plus Bortezomib, Lenalidomide and Dexamethasone for Transplant-Ineligible or Transplant-Deferred Newly Diagnosed Multiple Myeloma: The Randomized Phase 3 CEPHEUS Trial https://pubmed.ncbi.nlm.nih.gov/39910273/ Isatuximab, Bortezomib, Lenalidomide, and Dexamethasone for Multiple Myeloma https://pubmed.ncbi.nlm.nih.gov/38832972/ A Phase 2 Study of Modified Lenalidomide, Bortezomib and Dexamethasone in Transplant-Ineligible Multiple Myeloma https://pubmed.ncbi.nlm.nih.gov/29740809/ Bortezomib With Lenalidomide and Dexamethasone Versus Lenalidomide and Dexamethasone Alone in Patients With Newly Diagnosed Myeloma Without Intent for Immediate Autologous Stem-Cell Transplant (SWOG S0777): A Randomised, Open-Label, Phase 3 Trial https://pubmed.ncbi.nlm.nih.gov/28017406/ Daratumumab, Lenalidomide, Bortezomib, and Dexamethasone for Transplant-Eligible Newly Diagnosed Multiple Myeloma: The GRIFFIN Trial https://pubmed.ncbi.nlm.nih.gov/32325490/ Carfilzomib Induction, Consolidation, and Maintenance With or Without Autologous Stem-Cell Transplantation in Patients With Newly Diagnosed Multiple Myeloma: Pre-Planned Cytogenetic Subgroup Analysis of the Randomised, Phase 2 FORTE Trial https://pubmed.ncbi.nlm.nih.gov/36528035/ Results of the Phase III Randomized Iskia Trial: Isatuximab-Carfilzomib-Lenalidomide-Dexamethasone Vs Carfilzomib-Lenalidomide-Dexamethasone As Pre-Transplant Induction and Post-Transplant Consolidation in Newly Diagnosed Multiple Myeloma Patients https://www.sciencedirect.com/science/article/abs/pii/S0006497123735416

Tony (11, M) Story.  Now we sleep with the alarm on every night.   Elopement:  involves leaving a safe or supervised area without permission. poses a risk to the individual's safety. can occur in various settings. is a common behavior in individuals with ASD. Virginie (10, M) Stories and Service Dog.   Single Mom (9, M) heading to the judge and calls me asking for papers.  Here you go…   Let's note that Elopement was masked behind broader buckets and I think this is a miss.  We need to name and discuss this very challenging behavior.   FB Survey.  4 hours.  100+ votes, 100 comments.   https://www.facebook.com/groups/syngap/posts/1734514154096968/ 76% of respondents eloped (35% F, 41% M) 24% didn't (17% F, 7% M)   11 F, no elopement at home - but sometimes tries to elope while at school. C ( has always been an eloper - kid has a sixth sense for when someone leaves the door unlocked C elopes and age 16 years old H 9 girl constantly running away B-7.5 years old Girl - 3 Fourteen. She doesn't anymore, but used to. Not to the degree that other families struggle, but we definitely had to keep an extra close eye/ear. Had bells on all our doors, etc. Did get a call from our neighbor once while I was making dinner saying that S had just walked into her house, that she was safe, and was helping to give their baby a bath. Thankfully they were very good friends and took it in stride. (S was about four at the time.) Boys age 7. He has for awhile Boy, age 8.5. Just started eloping more so recently, in the last year. 11, girl Boy age 15 13 year old girl Girl-3 Ty 10 elopes since he can walk. It's our biggest problem. Boy age 8 but has been doing it for a while Age 7, girl. Boy - 14y/o Boy age 9… he's a track star! Boy age 12, has eloped since he could walk/run. It probably peaked around age 6 and got better with meds. Elopement is less frequent now but scarier now that he's older and higher. Boy 10. Always has wandered and will still now run off knowing he's not suppose to Any chance he gets 13 My boy (22 y/o) always was and is now a master of escape, he can hear if I turn the key in the door, front door has an alarm fitted just in case Boy , 25 the risk is high because he looks typical 25 yo female, requiring alarms, cameras,and specialized door locks.  In a state that says that these measures are unlawful restraint and invasion of privacy   Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1.  See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112   McKee, 2025.  Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts.  See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration. https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstract   Cunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview.  See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft.  https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346   Impulsivity quotes:   Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're like‘oh my god, how are you going to get out of that?'”   Jumps into pools - “He would walk into a pond. We were at the pool the other day…and he just walked off the edge and just fell into the water and was like… he would have just drowned.”   Runs toward crowds - “She was a bolter. So that was always scary. We had a few scares where you look away for a moment, I mean, we always had somebody with her, but it could be a moment's time and it's like where'd you go, you thought she was right there.”   FUNDRAISING 3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4  Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5 Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   Also, Conference is in 107 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/   STUDIES - MATTER https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing    Pubmed is at 37 (One a week!) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&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 - 4,283 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,303 Twitter https://twitter.com/cureSYNGAP1  - 46k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 178 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Archie was diagnosed as autistic during the adoption assessment process.  Tor and Archie talk about what it's like to learn you're autistic and the strengths it brings the as parents.

Feeling confused by all the conflicting advice on how to manage your type 2 diabetes or prediabetes? You're not alone. In this episode we tackle the very real problem of information overload, why it happens, how it can derail your progress, and what you can do to finally cut through the noise.You'll learn how to spot reliable, evidence-based advice, avoid getting sidetracked by extreme claims or shiny new trends, and stay focused on a few core habits that actually work. You'll discover practical tips, quality indicators to look for, and real success stories from people just like you who've moved past confusion and started seeing real results.If you're tired of spinning in circles and ready to simplify your approach so you can lower your blood sugar, improve your A1c, and feel better for the long term, this episode is for you. For show notes and resources, please visit: https://Type2DiabetesTalk.comTo share your questions and suggestions, leave us a voice message or email at: https://Type2DiabetesTalk.com/messageExplore our proven programs and services, visit: https://Type2DiabetesTalk.com/programsSubscribe to our free weekly newsletter for podcast updates, valuable nutrition tips and more: https://Type2DiabetesTalk.com/subscribe

Imagine the moment: sitting in a doctor's office, hearing those words for the first time – "You have a chronic illness." What follows isn't just medical treatment, but an emotional journey through fear, confusion, and eventually, finding your way forward.We've been in that exact seat, and in this heartfelt season opener, my Spoonie Sisters and I share the raw, unfiltered truth about our diagnosis experiences. Andi reveals how years of medical gaslighting led to a diagnosis only after a serious health crisis, while I found relief in finally having answers. Linnea opens up about the fear of following her mother's difficult RA journey, not realizing newer treatments would offer different possibilities.The conversation dives deep into what we desperately wish someone had told us early on. "This is not your great-grandmother's disease," I share, reflecting on how outdated perceptions of arthritis initially terrified me. Andi emphasizes the life-changing power of finding community after years of isolation: "I encourage people, please find sisterhood and brotherhood so you don't spiral in self-isolation."We tackle the challenges that follow diagnosis – from handling information overload to the frustration of constantly proving an invisible illness. "Just because I don't look ill doesn't mean I'm not ill," Andi explains, challenging the common misconception of what "sick" should look like.Whether you're newly diagnosed or years into your journey, this episode offers both practical guidance and emotional support. Our shared experiences create a roadmap for navigating the complex terrain of chronic illness with dignity, self-compassion, and even joy. Because as we discover together, chronic illness changes how you move through the world, but it doesn't have to define your capacity for connection and happiness.So, You're Newly Diagnosed: https://amzn.to/44FphaImperfectly You:https://amzn.to/4mgV5sCRedefining Fine: https://www.amazon.com/Redefining-Fine-Journey-Self-Care-Unshakable/dp/1300976810My Spoonie Sisters - YouTubeMy Spoonie SistersHome - My Spoonie SistersSend us a text Are you living with a chronic illness and want to make your voice heard? Rare Patient Voice connects patients and caregivers with research opportunities—so you can share your experiences and get paid for your time! Your insights help drive real change in healthcare.Let's Get Started - Rare Patient Voice Support the showSupport:https://rarepatientvoice.com/Myspooniesisters/https://www.etsy.com/shop/MySpoonieSistershttps://www.graceandable.com/?bg_ref=980:nzTyG6c9zK (Use code GAJen10)Website:https://myspooniesisters.com/ Discount Codes: GIANT Microbes | Gag Gifts, Teacher Gifts, Doctor Gifts, Gifts for Girlfriends and Boyfriends code SPOONIE20 for 20% off

In this week's episode, we'll learn more about the effects of daratumumab maintenance on minimal residual disease in patients with newly diagnosed, transplant-eligible multiple myeloma; the role of neutrophils in the pathophysiology of myeloproliferative neoplasms; and a genome-wide association study that identified novel genetic loci associated with the risk of heavy menstrual bleeding.Featured ArticlesDaratumumab-bortezomib-thalidomide-dexamethasone for newly diagnosed myeloma: CASSIOPEIA minimal residual disease resultsDefective neutrophil clearance in JAK2^V617F myeloproliferative neoplasms drives myelofibrosis via immune checkpoint CD24Genome-wide meta-analysis of heavy menstrual bleeding reveals 36 risk loci

In this week's episode we'll learn more about enhanced transplant characteristics; targeting the JAK-STAT pathway with ruxolitinib in patients with adult-onset Still's disease and macrophage activation syndrome; and a pair of trials demonstrating lack of benefit for the anti-CD47 monoclonal antibody magrolimab in newly diagnosed acute myeloid leukemia.Featured ArticlesHeterogeneity of high-potency multilineage hematopoietic stem cells and identification of “Super” transplantabilityRuxolitinib targets JAK-STAT signaling to modulate neutrophil activation in refractory macrophage activation syndromeMagrolimab plus azacitidine vs physician's choice for untreated TP53-mutated acute myeloid leukemia: the ENHANCE-2 studyThe ENHANCE-3 study: venetoclax and azacitidine plus magrolimab or placebo for untreated AML unfit for intensive therapy

How familiar are you with the latest strategies to individualize treatment for patients with newly diagnosed multiple myeloma (NDMM)? Credit available for this activity expires: 7/25/26 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/1002741?ecd=bdc_podcast_libsyn_mscpedu

Multiple sclerosis (MS) is a disease in which the body’s immune system attacks the protective layer around the nerves. It affects more than 2.8 million people worldwide, most often younger adults between ages 20 and 40 – with women significantly more affected. What are the symptoms? What should newly diagnosed individuals know? In this episode, Robert Bermel, MD, Director of the Mellen Center for Multiple Sclerosis at the Cleveland Clinic, explains what happens after an MS diagnosis, from early signs and the importance of timely treatment to lifestyle strategies and long-term planning. We also hear from Hanna Jones, a 31-year-old MS advocate and blogger, who shares her personal journey of being diagnosed and how education helped her face her diagnosis. Whether you’re newly diagnosed, a caregiver, or simply curious, this episode offers insight, guidance, and hope.See omnystudio.com/listener for privacy information.

In this week's episode we'll learn more about the use of ruxolitinib plus dexamethasone to treat newly diagnosed patients with adult hemophagocytic lymphohistiocytosis; lysine-specific demethylase-1 inhibitors as a potential new class of therapies for sickle cell disease and other beta-globinopathies; and insights into clinical characteristics of patients with von Willebrand factor levels that are lower than normal but higher than those typically used to diagnose von Willebrand disease.Featured Articles:Ruxolitinib combined with dexamethasone for adult patients with newly diagnosed hemophagocytic lymphohistiocytosis in ChinaNovel, potent, and orally bioavailable LSD1 inhibitors induce fetal hemoglobin synthesis in a sickle cell disease mouse modelClinical phenotype and pathophysiological mechanisms underlying qualitative low VWF

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/FVK865. CME/MOC/AAPA/IPCE credit will be available until June 30, 2026.4x4 in Multiple Myeloma: Maintaining Momentum for Delivering Innovative Care in Newly Diagnosed and Relapsed Disease In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and HealthTree Foundation for Multiple Myeloma. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent medical education grants from Bristol Myers Squibb, GSK, Johnson & Johnson, and Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/FVK865. CME/MOC/AAPA/IPCE credit will be available until June 30, 2026.4x4 in Multiple Myeloma: Maintaining Momentum for Delivering Innovative Care in Newly Diagnosed and Relapsed Disease In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and HealthTree Foundation for Multiple Myeloma. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent medical education grants from Bristol Myers Squibb, GSK, Johnson & Johnson, and Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/FVK865. CME/MOC/AAPA/IPCE credit will be available until June 30, 2026.4x4 in Multiple Myeloma: Maintaining Momentum for Delivering Innovative Care in Newly Diagnosed and Relapsed Disease In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and HealthTree Foundation for Multiple Myeloma. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent medical education grants from Bristol Myers Squibb, GSK, Johnson & Johnson, and Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/FVK865. CME/MOC/AAPA/IPCE credit will be available until June 30, 2026.4x4 in Multiple Myeloma: Maintaining Momentum for Delivering Innovative Care in Newly Diagnosed and Relapsed Disease In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and HealthTree Foundation for Multiple Myeloma. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent medical education grants from Bristol Myers Squibb, GSK, Johnson & Johnson, and Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/FVK865. CME/MOC/AAPA/IPCE credit will be available until June 30, 2026.4x4 in Multiple Myeloma: Maintaining Momentum for Delivering Innovative Care in Newly Diagnosed and Relapsed Disease In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and HealthTree Foundation for Multiple Myeloma. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent medical education grants from Bristol Myers Squibb, GSK, Johnson & Johnson, and Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/AAPA/IPCE information, and to apply for credit, please visit us at PeerView.com/FVK865. CME/MOC/AAPA/IPCE credit will be available until June 30, 2026.4x4 in Multiple Myeloma: Maintaining Momentum for Delivering Innovative Care in Newly Diagnosed and Relapsed Disease In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and HealthTree Foundation for Multiple Myeloma. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by independent medical education grants from Bristol Myers Squibb, GSK, Johnson & Johnson, and Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

July 16, 2025. Week 29. What is a natural history study (NHS)?  And why do we care? We care because we haven't done this before, heal those born with disease. Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies. ⁠NHS are critical for clinical trial design.  Size and Quality matter.  Validated scales are better than PROs regardless of what the current rhetoric is. What's going on now? USA - https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - 135+ over three sites, some with FOUR visits, and counting - Adding GCP - Collaborating with world class institutions and excellent clinicians at Stanford, Children's Colorado and, of course, CHOP. USA - https://Citizen.Health/partners/srf has almost 300 patients! Retrospective Health Data. USA - https://rare-x.org/syngap1/ is where we collect PROs. Australia - Dr. Sheffer is running a study, talk to her or Dani. Latin America - SYNGAP1 Argentina with others joining. Europe - https://www.patre.info/syngap1/  Key takeaways for Industry SYNGAP1 is well positioned to work with… Vlasskamp and Wiltrout are published, Citizen Health is growing & ProMMiS is truly exceptional – and growing, and Rare-X is collecting eight key PROs.   Additionally, there are significant international efforts in Australia, Latin America & Europe. Census: https://curesyngap1.org/blog/syngap1-census-2025-update-55-in-q2-2025-total-1636/  If you are in industry and thinking about starting another NHS for your asset, please don't.  Please instead partner with existing PAGs and NHS studies in your key geographies to move faster, have bigger N and not waste precious patients time, we need to accelerate drug development not slow it down by diluting patients and clinicians between too many studies. Baseline papers on SYNGAP1: 1998 - Huganir - SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family - https://pubmed.ncbi.nlm.nih.gov/9581761/ 2009 - Michaud - Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation - https://pubmed.ncbi.nlm.nih.gov/19196676/ 2013 - Carvill - Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 - https://pubmed.ncbi.nlm.nih.gov/23708187/ 2019 - Vlasskamp - SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy - https://pubmed.ncbi.nlm.nih.gov/30541864/ 2023 - Rong - Adult Phenotype of SYNGAP1-DEE - https://pubmed.ncbi.nlm.nih.gov/38045990/ 2024 - Wiltrout - Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism - https://pubmed.ncbi.nlm.nih.gov/38470175/ Pubmed is at 28 (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   CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/   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 - 4,238 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,400 followers with 575 Videos on YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,302 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 175 of #Syngap10  #RareDisease #PatientAdvocacy #SYNGAP1 #SynGAP #ProMMiS

Featuring perspectives from Dr Joyce F Liu, Dr David M O'Malley, Dr Ritu Salani, Dr Alessandro D Santin and Dr Shannon N Westin, moderated by Dr Westin, including the following topics: Introduction (0:00) Up-Front Treatment for Advanced Ovarian Cancer (OC) — Dr Liu (2:00) Current Management of Relapsed/Refractory (R/R) OC; Promising Novel Agents and Strategies Under Investigation — Dr O'Malley (27:23) Role of HER2-Targeted Therapy in Advanced OC, Endometrial Cancer (EC) and Other Gynecologic Cancers — Dr Santin (50:22) First-Line Therapy for Advanced EC — Dr Westin (1:15:00) Current Therapeutic Options for R/R EC; Novel Investigational Strategies for Newly Diagnosed and Recurrent Disease — Dr Salani (1:36:45) CME information and select publications  

In this week's episode, we'll learn about using AI to assess transplant risk in myelofibrosis. In a step toward personalized medicine, researchers report on a machine learning model that identifies 25% of patients with poor outcomes. After that: preventing priapism in men with sickle cell anemia. A recent phase 2 feasibility study shows high rates of recruitment, retention, and adherence to oral therapies, coupled with a significant reduction in the risk of this difficult complication. Finally, new research indicates that hallmarks of terminal T-cell exhaustion are absent in multiple myeloma, from diagnosis through maintenance therapy. We explore these provocative and counterintuitive findings arising from profiling of blood and marrow samples.Featured Articles:Use of machine learning techniques to predict poor survival after hematopoietic cell transplantation for myelofibrosisA controlled trial for preventing priapism in sickle cell anemia: hydroxyurea plus placebo vs hydroxyurea plus tadalafilHallmarks of T-cell exhaustion and antigen experience are absent in multiple myeloma from diagnosis to maintenance therapy

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

In this JCO Article Insights episode, host Michael Hughes summarizes "Co-Occurrence of Cytogenetic Abnormalities and High-Risk Disease in Newly Diagnosed and Relapsed/Refractory Multiple Myeloma" by Kaiser et al, published February 18, 2025, followed by an interview with JCO Associate Editor Suzanne Lentzsch. Transcript Michael Hughes: Welcome to this episode of JCO Article Insights. This is Michael Hughes, JCO's editorial fellow. Today I have the privilege and pleasure of interviewing Dr. Suzanne Lentzsch on the “Co-Occurrence of Cytogenetic Abnormalities and High-Risk Disease in Newly Diagnosed and Relapsed/Refractory Multiple Myeloma” by Dr. Kaiser and colleagues. At the time of this recording, our guest has disclosures that will be linked in the transcript. The urge to identify patients with aggressive disease, which is the first step in any effort to provide personalized medical care, is intuitive to physicians today. Multiple myeloma patients have experienced heterogeneous outcomes since we first started characterizing the disease. Some patients live for decades after treatment. Some, irrespective of treatment administered, exhibit rapidly relapsing disease. We term this ‘high-risk myeloma'. The Durie-Salmon Risk Stratification System, introduced in 1975, was the first formal effort to identify those patients with aggressive, high-risk myeloma. However, the introduction of novel approaches in therapeutic agents—autologous stem cell transplantation with melphalan conditioning, proteasome inhibitors like bortezomib, or immunomodulatory drugs like lenalidomide—rendered the Durie-Salmon system a less precise predictor of outcomes. The International Staging System in 2005, predicated upon the burden of disease as measured by beta-2 microglobulin and serum albumin, was the second attempt at identifying high-risk myeloma. It was eventually supplanted by the Revised International Staging System (RISS) in 2015, which incorporated novel clinical and cytogenetic markers and remains the primary way physicians think about the risk of progression or relapse in multiple myeloma. Much attention has been focused on the canonically high-risk cytogenetic abnormalities in myeloma, typically identified by fluorescence in situ hybridization: translocation t(4;14), translocation t(14;16), translocation t(14;20), and deletion of 17p. Much attention also has been focused on the fact that intermediate-risk disease, as defined by the RISS, has been shown to be a heterogeneous subgroup in terms of survival outcomes. The RISS underwent revision in 2022 to account for such heterogeneity and has become the R2-ISS, published here in the Journal of Clinical Oncology first in 2022. Translocations t(14;16) and t(14;20) were removed, and gain or amplification of 1q was added. Such revisions to core parts of a modern risk-stratification system reflect the fact that myeloma right now is in flux, both in treatment paradigms and risk-stratification systems. The field in recent years has undergone numerous remarkable changes, from the advent of anti-CD38 agents to the introduction of cellular and bispecific therapies, to the very technology we use to investigate genetic lesions. The major issue is that we're seeing numerous trials using different criteria for the definition of high-risk multiple myeloma. This is a burgeoning problem and speaks very much now to a critical need for an effort to consolidate all these criteria on at least cytogenetic lesions as we move into an era of response-adapted treatment strategies. The excellent article by Kaiser and colleagues, published in the February 2024 edition of the JCO, does just that in a far-ranging meta-analysis of data from 24 prospective therapeutic trials. All 24 trials were phase II or III randomized controlled trials for newly diagnosed and relapsed/refractory multiple myeloma. The paper takes a federated analysis approach: participants provided summaries and performed prespecified uniform analyses. The high-risk cytogenetic abnormalities examined were translocation t(4;14), gain or amplification of 1q, deletion of 17p, and translocation t(14;16), if included in the original trials. All of these were collected into zero, single, or double-hit categories, not unlike the system currently present in diffuse large B-cell lymphomas. The outcomes studied were progression-free survival and overall survival, with these analyses adhering to modified ITT principles. The authors also performed prespecified subgroup analyses in the following: transplant-eligible newly diagnosed myeloma, transplant non-ineligible newly diagnosed myeloma, and relapsed/refractory myeloma. They, in addition, described heterogeneity by the I2 statistic, which, if above 50%, denotes substantial heterogeneity by the Cochrane Review Handbook, and otherwise performed sensitivity analyses and assessed bias to confirm the robustness of their results. In terms of those results, looking at the data collected, there was an appropriate spread of anti-CD38-containing and non-containing trials. 7,724 patients were evaluable of a total 13,926 enrolled in those 24 trials: 4,106 from nine trials in transplant-eligible myeloma, 1,816 from seven trials in transplant non-ineligible myeloma, and 1,802 from eight trials in relapsed/refractory disease. ISS stage for all patients was relatively evenly spread: stage I, 34.5%; stage II, 37%; stage III, 24%. In terms of high-risk cytogenetic lesions, double-hit disease was present in 13.8% of patients, and single-hit disease was present in 37.4%. In terms of outcomes, Kaiser and colleagues found a consistent separation in survival outcomes when the cohort was stratified by the number of high-risk cytogenetic lesions present. For PFS, the hazard ratio was for double-hit 2.28, for single-hit 1.51, without significant heterogeneity. For overall survival, the hazard ratio was for double-hit disease 2.94, single-hit disease 1.69, without significant heterogeneity except in patients with double-hit disease at 56.5%. By clinical subgroups, hazard ratios remained pretty consistent with the overall cohort analysis. In transplant-eligible newly diagnosed myeloma, the hazard ratio for progression is 2.53, overall survival 4.17. For transplant non-ineligible, 1.97 progression, 2.31 mortality. Relapsed/refractory disease progression 2.05, overall mortality 2.21, without significant heterogeneity. Of trials which started recruitment since 2015, that is to say, since daratumumab was FDA approved and thus since an anti-CD38 agent was incorporated into these regimens, analysis revealed the same results, with double-hit myeloma still experiencing worse survival by far of the three categories analyzed. Risk of bias overall was low by advanced statistical analysis. In terms of subgroup analysis, double-hit results for transplant-eligible newly diagnosed myeloma may have been skewed by smaller study effects, where the upper bound of the estimated hazard ratio for mortality reached into the 15 to 20 range. In conclusion, from a massive amount of data comes a very elegant way to think about the role certain cytogenetic abnormalities play in multiple myeloma. A simple number of lesions - zero, one, or at least two - can risk-stratify. This is a powerful new prognostic biomarker candidate and, somewhat soberingly, also may confirm, or at least suggests, that anti-CD38 agents are unable to overcome the deleterious impact of certain biologic characteristics of myeloma. Where do we go from here? This certainly needs further a priori prospective validation. This did not include cellular therapies. The very scale at which this risk-stratification system operates, agnostic to specific genetic lesion, let alone point mutations, lends itself also to further exploration. And to discuss this piece further, we welcome the one and only Dr. Suzanne Lentzsch to the episode. Dr. Lentzsch serves as an associate editor for JCO and is a world-renowned leader at the bleeding edge of plasma cell dyscrasia research. Dr. Lentzsch, there are several new investigations which suggest that translocation t(4;14), for example, is itself a heterogeneous collection of patients. There are other studies which suggest that point mutations in oncogenes like TP53, which were not assessed in Kaiser et al., carry substantial detrimental impact. Is this classification system - no-hit, single-hit, double-hit - too broad a look at tumor genetics? And how do you think we will end up incorporating ever more detailed investigations into the genetics of multiple myeloma moving forward? Dr. Suzanne Lentzsch: Michael, first of all, excellent presentation of that very important trial. Great summary. And of course, it's a pleasure to be here with JCO and with you to discuss that manuscript. Let me go back a little bit to high-risk multiple myeloma. I think over the last years, we had a lot of information on what is high-risk multiple myeloma, and I just want to mention a couple of things, that we separate not only cytogenetically high-risk multiple myeloma, we also have functional high-risk multiple myeloma, with an early relapse after transplant, within 12 months, or two years after start of treatment for the non transplant patients, which is difficult to assess because you cannot decide whether this is a high-risk patient before you start treatment. You only know that in retrospective. Other forms of high-risk: extramedullary disease, circulating tumor cells/plasma cell dyscrasia, patients who never achieve MRD positivity, extramedullary multiple myeloma, or even age and frailty is a high risk for our patients. Then we have gene expression and gene sequencing. So there is so much information currently to really assess what is high-risk multiple myeloma, that is very difficult to find common ground and establish something for future clinical trials. So what Dr. Kaiser did was really to develop a very elegant system with information we should all have. He used four factors: translocation t(14;16), t(4;14), gain or amplification of 1q, and deletion of 17p. Of course, this is not the entire, I would say, information we have on high risk, but I think it's a good standard. It's a very elegant system to really classify a standard single-hit, double-hit, high-risk multiple myeloma, which can be used for all physicians who treat multiple myeloma, and especially, it might also work in resource-scarce settings. So, ultimately, I think that system is an easy-to-use baseline for our patients and provides the best information we can get, especially with a baseline, in order to compare clinical trials or to compare any data in the future. Michael Hughes: Thank you, Dr. Lentzsch. To the point that you made about this isn't the full story. There does, as you said, exist this persistent group of functional high-risk multiple myeloma where we see standard-risk cytogenetics, but these patients ultimately either exhibit primary refractory disease or very early relapse despite aggressive, standard aggressive treatment. How do you see risk-stratification systems incorporating other novel biomarkers for such patients? Is it truly all genetic? Or is next-generation sequencing, gene expression profiling, is that the answer? Or is there still a role for characterizing tumor burden? Dr. Suzanne Lentzsch: Excellent question, Michael, and I wish I would have the glass ball to answer that question. I see some problems with the current approach we have. First of all, to do the cytogenetics, you need good material. You only detect and identify what you have. If the bone marrow is of low quality, you have mainly peripheral blood in your bone marrow biopsy, you might not really fully have a representation of all cytogenetic changes in your bone marrow. So I think with a low-quality sample, that you might miss one or the other really cytogenetic high risk. So, having said this, I think circulating tumor cells, that might be something we will look into in the future, because circulating tumor cells are readily available, can be assessed without doing a bone marrow biopsy. And what is even more exciting, in addition to the circulating tumor cells or plasma cells, using them is next-generation sequencing. I think at the moment, we are more in a collection phase where we really try to correlate sequencing with our cytogenetics and especially to establish next-generation sequencing in all of our patients. But I think after that collection phase, maybe in the future, collecting peripheral blood and doing sequencing on peripheral blood samples might be the way to go. In addition, I don't want to forget the imaging. We started with a skeletal survey, and we know that you probably need to lose 30% of the bone before you see a lesion at all. So having imaging, such as diffusion-weighted imaging, whole-body MRI, is also, together with sequencing of the tumor cells, a step into the right direction. Michael Hughes: Thank you, Dr. Lentzsch. Bringing this back to the article at hand, how has Kaiser et al. changed the way we discuss myeloma with patients in the exam room? Dr. Suzanne Lentzsch: I think we have more data on hand. So far, we talked about standard risk and high risk, but I think right now, with a very simple system, we can go into the room and we can tell the patient, "Listen, you don't have any of those cytogenetic abnormalities. I think you have a standard risk. We might give you a simple maintenance treatment with Revlimid." But we might also go into the room and say, "I'm really concerned. You have so-called double-hit multiple myeloma. You have high-risk and at least two of those abnormal cytogenetics which we discussed, and I think you need a more intense maintenance treatment, for instance, double maintenance." I think we know that a high-risk multiple myeloma can be brought into a remission, but the problem that we have is to keep those patients into a remission. So, I think a more intense treatment, for instance, with a double maintenance, or with consolidation after transplant, and a longer and more intense treatment is justified in patients who have that truly high-risk multiple myeloma described here. Michael Hughes: Dr. Lentzsch, thank you so much for your time and your wisdom. Dr. Suzanne Lentzsch: My pleasure. Thank you for having me. Michael Hughes: Listeners, thank you for listening to JCO Article Insights. Please come back for more interviews and article summaries, and be sure to leave us a rating and review so others can find our show. For more podcasts and episodes from ASCO, please visit ASCO.org/podcasts.   The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience, and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.

In this special live episode of the Tick Boot Camp podcast, we interview Dr. Bill Rawls, a renowned expert in chronic Lyme disease, at the ILADS conference. They dive deep into the critical steps newly diagnosed Lyme disease patients should take, discussing the complexity of chronic infections, the role of the nervous system, and key herbal-based solutions like the HPA Balance, Restore Kit, and Gut Rebuild Kit to support healing. Key Takeaways: Understanding Chronic Lyme – How multiple microbes contribute to long-term illness and why Lyme disease is more than just Borrelia. Regulating the Nervous System – The importance of managing the fight-or-flight response for improved recovery. The HPA Balance Supplement – How this formula supports HPA axis regulation, stress reduction, and immune function. The Restore Kit – A comprehensive blend of antimicrobials, adaptogens, and cellular support designed for Lyme patients. The Gut Rebuild Kit – Why gut health is essential after antibiotic use and how to restore balance with the right nutrients. Holistic Healing Approach – How emotional health, detoxification, and physiological support are all interconnected in Lyme recovery. About Dr. Bill Rawls Dr. Bill Rawls is a board-certified physician with a background in family medicine and a personal journey overcoming Lyme disease. He is the author of "Suffered Long Enough" and "Unlocking Lyme" and serves as the Medical Director of Vital Plan, an herbal supplement and wellness company. Dr. Rawls is dedicated to helping Lyme patients take control of their healing through natural solutions. Resources & Links: Follow the latest ILADS updates: ILADS.org Learn more about Dr. Bill Rawls: RawlsMD.com Stay connected with Tick Boot Camp: Website | Instagram | Facebook | YouTube | TikTok | Twitter (X)

In this week's episode, Kate speaks with Rachel Morgan-Trimmer, a neurodiversity consultant, TEDx speaker, and author of How to Be Autistic: A Guide for the Newly Diagnosed. Together they explore the complex intersection of ADHD and autism, and what it means to truly support neurodivergent people at work and beyond.Rachel shares her journey of late diagnosis, burnout, and self-discovery, and unpacks the lesser-known ways mental and physical health can be affected when ADHD and autism go unsupported. They dive deep into the power of language, the harm of assumptions, and how workplaces can move from just “awareness” to real, sustainable inclusion through low-cost, high-impact interventions.What You'll Learn:✨ Why the overlap between ADHD and autism can feel confusing — especially for women✨ How internalised stigma, shame, and burnout can show up at work✨ What sustainable, inclusive systems for neurodiveristy look like in the workplace✨ How to support neurodivergent employees and be a better manager ✨ The role of passion, purpose, and flexibility in helping neurodivergent employees thrive✨ Why workplace inclusion must centre both health and performance✨ Why neurodiversity training is more in demand than ever✨ How changing the narrative from “not enough” to “full of potential” helps productivity and outcomes ✨ Rachel's personal experience riding the wave of ADHD and autism — and how she empowers others to be their authentic selvesTimestamps:

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

In this powerful episode, we dive into the often-overlooked realities of living with Multiple Sclerosis. From the terrifying first symptoms to navigating the healthcare system, we talk about the importance of being your own advocate when answers are hard to find. Whether you're newly diagnosed or supporting someone with MS, this conversation is a reminder: your voice matters, and you're not alone.We cover:•What MS symptoms can look and feel like•How scary and isolating the unknown can be•Tips on advocating for your health when you feel dismissed•Raising awareness and fighting the stigma around MSFollow us on IG for more:https://www.instagram.com/spillinitpodcast?igsh=MThjdDd6Nzc2cXNnOQ==https://www.instagram.com/thecortreport?igsh=aHp3eHVzMzNpbjBwhttps://www.instagram.com/grayed_early?igsh=MWRwZ2VodzRmaHZuNA%3D%3D&utm_source=qrHave an inspiring story you would like to share? Fill out this Questionnaire and we will be in touch. Helpful Books About MS:    1.    “Multiple Sclerosis: A Guide for the Newly Diagnosed” by Nancy J. Holland – great for understanding what MS is and how to manage it early on.    2.    “The Wahls Protocol” by Dr. Terry Wahls – explores how diet and lifestyle may impact autoimmune diseases like MS.    3.    “MS and Your Feelings: Handling the Ups and Downs of Multiple Sclerosis” by Allison Shadday – focuses on the emotional side of the disease.Helpful Podcasts About MS:    1.    “MS Conversations” – Real stories and interviews with people living with MS.    2.    “The MS Gym Podcast” – Focuses on movement, mindset, and managing MS symptoms through exercise and positivity.    3.    “RealTalk MS” – Hosted by Jon Strum, this show offers deep dives into research, advocacy, and life with MS.

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

Please visit answersincme.com/BCK860 to participate, download slides and supporting materials, complete the post test, and obtain credit. In this activity, an expert in myeloma discusses the latest data in anti-CD38 quadruplet regimens in newly diagnosed multiple myeloma. Upon completion of this activity, participants should be better able to: Identify the role of anti-CD38 monoclonal antibody (mAB)–based quadruplet regimens in the treatment landscape for newly diagnosed multiple myeloma (NDMM); Review the latest clinical data of anti-CD38 mAB-based quadruplet regimens for transplant-ineligible patients with NDMM; and Analyze evidence-based strategies for optimizing outcomes with anti-CD38 mAB-based quadruplet regimens in patients with transplant-ineligible NDMM.

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

March 2025 Journal Club Podcast Title: Gene Expression Changes Associated With Recurrence After Gross Total Resection of Newly Diagnosed World Health Organization Grade 1 Meningioma To read journal article: https://journals.lww.com/neurosurgery/fulltext/2025/03000/gene_expression_changes_associated_with_recurrence.6.aspx Author: Ramin Morshed Guest Faculty: Tomas Garzon-Muvdi Moderator: Kimberly Hoang Resident Planner: Alexander Himstead

In this episode, we discuss the management of CML with Dr. Hagop Kantarjian from MD Anderson Cancer Center. Here are the key articles we discussed:  1. ASC4FIRST RCT: Asciminib in newly diagnosed CML. https://pubmed.ncbi.nlm.nih.gov/38820078/ 2. 5-year follow-up of ENESTnd RCT (nilotinib): https://pubmed.ncbi.nlm.nih.gov/26837842/ 3. 10-year follow-up of ENESTnd RCT (nilotinib): https://pubmed.ncbi.nlm.nih.gov/33414482/ 4. 10-year follow-up of CML-IV RCT (imatinib): https://pubmed.ncbi.nlm.nih.gov/25676422/ 5. MD Anderson data on low-dose dasatinib (50 mg): https://pubmed.ncbi.nlm.nih.gov/36054032/https://pubmed.ncbi.nlm.nih.gov/31553487/ 6. CML: 2025 update on diagnosis, therapy, and monitoring: https://pubmed.ncbi.nlm.nih.gov/39093014/ 

A new RA diagnosis can be overwhelming, and it's easy to feel lost in a sea of emotions and uncertainty. In this episode, I share my best advice for navigating this new reality—offering practical tips on mindset, building a strong support system, and avoiding the pitfalls of misinformation.You'll also hear from fellow RA patients who share their personal insights and heartfelt encouragement, helping you approach your diagnosis with renewed hope—and, if you're lucky, some evidence-based optimism.Drawing from my 20+ years of living with RA and my expertise as an occupational therapist, I revisit key lessons from Episode 4 (originally released in 2020) and add fresh reflections from my last five years of running patient support groups and educational programs.Tune in for a thoughtful, compassionate conversation designed to help you move forward with confidence and clarity.For full episode details including a transcript:Go to the episode page on the Arthritis Life website!Episode at a Glance: Navigating Your RA DiagnosisCoping with the Initial Shock – Practical tips to help you process the emotions that come with a new diagnosis and adjust to this new chapter of your life.Educating Yourself Without Overwhelm – Learn how to find reliable information about RA without falling into endless internet rabbit holes or misinformation traps.Building a Strong Support System – How to connect with the right people—both in real life and online—so you feel supported, understood, and less alone.Working with Your Medical Team – Strategies for communicating effectively with your doctors and advocating for the care you deserve.Finding the Right Treatment Path – A guide to exploring treatment options with confidence, so you can make informed decisions that fit your needs.Managing Stress & Protecting Your Mental Health – Simple, effective ways to care for your mind and body while adjusting to life with RA.A Message of Hope & Encouragement – You're not alone in this. Hear words of support and reassurance to help you move forward with confidence.Medical disclaimer:All content found on Arthritis Life public channels was created for generalized informational purposes only. The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.Episode SponsorsRheum to THRIVE, an online course and support program Cheryl created to help people with rheumatic disease go from overwhelmed, confused and alone to confident, supported and connected. See all the details - you don't have to figure it all out on your own, I'm here to guide and support you!For full episode details including a transcript:Go to the episode page on the Arthritis Life website!

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

Dr. Stéphanie Gaillard and Dr. Bill Tew share updates to the evidence-based guideline on neoadjuvant chemotherapy for newly diagnosed, advanced ovarian cancer. They highlight recommendations across ten clinical questions, addressing initial assessment, primary cytoreductive surgery, neoadjuvant chemotherapy (NACT), tests and/or procedures that should be completed before NACT, preferred chemotherapy regimens, timing of interval cytoreductive surgery (ICS), hyperthermic intraperitoneal chemotherapy (HIPEC), post ICS-chemotherapy, maintenance therapy, and options for those without a clinical response to NACT. They highlight the evidence supporting these recommendations and emphasize the importance of this guideline for clinicians and patients. Read the full guideline update, “Neoadjuvant Chemotherapy for Newly Diagnosed, Advanced Ovarian Cancer: ASCO Guideline Update” at www.asco.org/gynecologic-cancer-guidelines." TRANSCRIPT This guideline, clinical tools, and resources are available at http://www.asco.org/genitourinary-cancer-guidelines. Read the full text of the guideline and review authors' disclosures of potential conflicts of interest in the Journal of Clinical Oncology. Brittany Harvey: Hello and welcome to the ASCO Guidelines podcast, one of ASCO's podcasts delivering timely information to keep you up to date on the latest changes, challenges and advances in oncology. You can find all the shows, including this one at asco.org/podcasts. My name is Brittany Harvey and today I'm interviewing Dr. Stéphanie Gaillard from Johns Hopkins University and Dr. Bill Tew from Memorial Sloan Kettering Cancer Center, co-chairs on “Neoadjuvant Chemotherapy for Newly Diagnosed, Advanced Ovarian Cancer: ASCO Guideline Update.” Thank you for being here today, Dr. Gaillard and Dr. Tew. Dr. Bill Tew: Thank you for having us. Dr. Stéphanie Gaillard: Yeah, thank you. It's great to be here. Brittany Harvey: Great. Then, before we discuss this guideline, I'd like to note that ASCO takes great care in the development of its guidelines and ensuring that the ASCO Conflict of Interest policy is followed for each guideline. The disclosures of potential conflicts of interest for the guideline panel, including Dr. Gaillard and Dr. Tew, who have joined us here today, are available online with the publication of the guideline in the Journal of Clinical Oncology, which is linked in the show notes. So then to dive into the content here, first, Dr. Tew, could you describe what prompted this update to the neoadjuvant chemotherapy for ovarian cancer guideline? And what is the scope of this update? Dr. Bill Tew: Yeah. It's been almost a decade since ASCO first published its neoadjuvant chemotherapy guidelines for women with newly diagnosed ovarian cancer, and over that 10-year period, there's really been a major shift in how oncologists treat patients in the U.S. If you look at the National Cancer Database, between 2010 and 2021, the proportion of patients with advanced ovarian cancer who underwent primary surgery fell from about 70% to about 37%. And there's been a doubling in the amount of neoadjuvant chemotherapy used. So we wanted to take a look at that and really both highlight the appropriate patient populations for primary surgery versus new adjuvant chemotherapy, as well as review any studies that have been published since then. There's been, I think, about 61 trials published, nine randomized trials alone in the last 10 years. And the scope of the guideline was really not only the neoadjuvant chemotherapy and surgical questions, but also to touch upon some new treatments that have come to the forefront in newly diagnosed ovarian cancer, including heated intraperitoneal chemotherapy or HIPEC, as well as the integration of maintenance therapy, particularly bevacizumab and PARP inhibitors. Brittany Harvey: Understood. That's a large amount of new evidence to review in this Update. Then, next, Dr. Gaillard, I'd like to review the key recommendations across the 10 clinical questions that the guideline addressed. So, starting with: What is recommended regarding initial assessment for patients with newly diagnosed pelvic masses and/or upper abdominal or peritoneal disease? Dr. Stéphanie Gaillard: Sure. So in talking about the first guidelines, the first one that we addressed was how to do the initial assessment for these patients. And first, and probably most critically, it's important to recognize that these patients really should be evaluated by a gynecologic oncologist prior to initiation of any therapy, whether that means a primary cytoreductive surgery or neoadjuvant chemotherapy, because really, they are the best ones to determine the pathway that the patient should take. The initial assessment should involve a CA-125, a CT of the abdomen and pelvis with oral and IV contrast, if not contraindicated, and then also chest imaging, in which a CT is really the preferred modality. And that helps to evaluate the extent of disease and the feasibility of the surgical resection. Now, there may be some other tools that could be helpful to also refine this assessment. So, for example, a laparoscopy can really help to determine the feasibility of surgical resection as well as the extent of disease. Further imaging, such as diffusion-weighted MRI or FDG-PET scans can be helpful, as well as ultrasounds. And then also an endometrial biopsy. And that was newly added because there really has been a divergence of treatment for endometrial cancer versus ovarian cancer. And so it's really important to determine upfront where the source of the disease is coming from. Brittany Harvey: I appreciate you describing those recommendations surrounding initial assessment. So following this assessment, Dr. Tew, which patients with newly diagnosed advanced epithelial ovarian cancer should be recommended primary cytoreductive surgery? Dr. Bill Tew: The key thing here is if the GYN oncology surgeon feels that they have a high likelihood of achieving a complete cytoreduction with acceptable morbidity, the panel overwhelmingly agrees that primary cytoreduction surgery should be recommended over chemotherapy. And we know that surgery is really the cornerstone to achieving clinical remission. And our concern is that neoadjuvant chemotherapy may be overused in this fit population. Sometimes it is challenging to determine truly if a patient has a high likelihood of complete cytoreduction or what is acceptable morbidity. But an evaluation with performance status, fitness, looking at age or frailty, nutritional status, as well as a review of imaging studies to plan and determine for who is the right patient for primary surgery is key. Brittany Harvey: And then the title of this guideline, Dr. Gaillard, for which patients is neoadjuvant chemotherapy recommended? Dr. Stéphanie Gaillard: Yeah. So there's really two patient populations that we think are best suited to receive neoadjuvant chemotherapy. Those may be patients who are fit for a primary cytoreductive surgery, but they're unlikely to have a complete cytoreduction if they were to go to surgery directly. And so that's where neoadjuvant chemotherapy can be very helpful in terms of increasing the ability to obtain a complete cytoreduction. The second population is those who are newly diagnosed who have a high perioperative risk, and so they're not fit to go to surgery directly. And so it may be better to start with neoadjuvant chemotherapy and then do an interval cytoreductive surgery. Again, I just want to emphasize the importance of including a gynecologic oncologist when making these determinations for patients. Brittany Harvey: Absolutely. So then the next clinical question. Dr. Tew, for those patients with newly diagnosed stage 3 to 4 epithelial ovarian cancer, what tests and or procedures are recommended before neoadjuvant chemotherapy is delivered? Dr. Bill Tew: The key test is to confirm the proper diagnosis, and that requires histological confirmation with a core biopsy. And this was a point the panel strongly emphasized, which is a core biopsy is a much better diagnostic tool compared to cytology alone. But there will be cases, exceptional cases, where a core biopsy cannot be performed. And in those settings, cytology combined with serum CA-125 and CEA is acceptable to exclude a non-gynecologic cancer. The other reason why cord biopsy is strongly preferred is because we already need to start thinking about germline and somatic testing for BRCA1 and 2. This information is important as we start to think about maintenance strategies for our patients. And so having that information early can help tailor the first-line chemotherapy regimen. Brittany Harvey: So then you've described who should be receiving neoadjuvant chemotherapy, but Dr. Gaillard, for those who are receiving neoadjuvant chemo, what is the preferred chemotherapy regimen? And then what does the expert panel recommend regarding timing of interval cytoreductive surgery? Dr. Stéphanie Gaillard: Sure. So for neoadjuvant chemotherapy, we generally recommend a platinum taxane doublet. This is especially important for patients with high grade serous or endometrioid ovarian cancers, and that's really because this is what the studies had used in the neoadjuvant trials. We recognize, however, that sometimes there are individual patient factors, such as advanced age or frailty, or certain disease factors such as the stage or rare histology that may shift what is used in terms of chemotherapy, but the recommendation is to try to stick as much as possible to the platinum taxane doublet. And then in terms of the timing of interval cytoreductive surgery, this was something that the panel discussed quite a bit and really felt that it should be performed after four or fewer cycles of neoadjuvant chemotherapy, especially in patients who've had a response to chemotherapy or stable disease. Sometimes alternative timing of surgery can be considered based on some patient centered factors, but those really haven't been prospectively evaluated. The studies that looked at neoadjuvant chemotherapy usually did the interval cytoreductive surgery after three or four cycles of chemotherapy. Brittany Harvey: For those patients who are receiving interval cytoreductive surgery, Dr. Tew, earlier in the podcast episode, you mentioned a new therapy. What is recommended regarding hyperthermic intraperitoneal chemotherapy? Dr. Bill Tew: Yeah, or simply HIPEC as everyone refers to it. You know, HIPEC isn't really a new therapy. HIPEC is a one-time perfusion of cisplatin, which is a chemotherapy that has been a standard treatment for ovarian cancer for decades. But the chemotherapy is heated and used as a wash during the interval cytoreductive surgery. And since our last guideline, there has been a publication of a randomized trial that looked at the use of HIPEC in this setting. And in that study there was improved disease-free and overall survival among the patients that underwent HIPEC versus those that did not. So we wanted to at least emphasize this data. But we also wanted to recognize that HIPEC may not be available at all sites. It's resource-intensive. It requires a patient to be medically fit for it, particularly renal function and performance status. And so it's something that could be discussed with the patient as an option in the interval cytoreductive surgery. One other point, the use of HIPEC during primary surgery or later lines of therapy still is unknown. And the other point is this HIPEC trial came prior to the introduction of maintenance PARP inhibitors. So there's still a lot of unknowns, but it is a reasonable option to discuss with appropriate patients. Brittany Harvey: I appreciate you reviewing that data and what that updated recommendation is from the panel. So then, Dr. Gaillard, after patients have received neoadjuvant chemotherapy and interval cytoreductive surgery, what is the post ICS chemotherapy recommended? Dr. Stéphanie Gaillard: The panel recommends some post ICS chemotherapy, as you mentioned. This is typically to continue the same chemotherapy that was done as neoadjuvant chemotherapy and so preferably platinum and taxane. And typically we recommend a total of six cycles of treatment, although the exact number of cycles that is given post-surgery can be adjusted based on different patient factors and their response to treatment. Importantly, also, timing is a factor, and we recommend that postoperative chemotherapy begin within four to six weeks after surgery, if at all feasible. Brittany Harvey: Absolutely. Those timing recommendations are key as well. So then, Dr. Tew, you mentioned this briefly earlier, but what is the role of maintenance therapy? Dr. Bill Tew: Maintenance therapy could be a full podcast plus of discussion, and it's complicated, but we did want to include it in this guideline in part because the determination of whether to continue treatment after completion of surgery and platinum based therapy is key as one is delivering care in the upfront setting. So first off, when we say maintenance therapy, we are typically referring to PARP inhibitors or bevacizumab. And I would refer listeners to the “ASCO PARP Inhibitor Guideline” that was updated about two years ago, as well as look at the FDA-approved label indications. But in general, PARP inhibitors, whether it's olaparib or niraparib, single agent or olaparib with bevacizumab, are standard treatments as maintenance, particularly in those patients with a germline or somatic BRCA mutation or those with an HRD score positive. And so it's really important that we emphasize germline and somatic BRCA testing for all patients with newly diagnosed ovarian cancer so that one can prepare for the use of maintenance therapy or not. And the other point is, as far as bevacizumab, bevacizumab is typically initiated during the chemotherapy section of first-line treatment. And in the guidelines we gave specific recommendations as far as when to start bevacizumab and in what patient population. Brittany Harvey: Great. Yes. And the PARP inhibitors guideline you mentioned is available on the ASCO guidelines website and we can provide a link in the show notes for our listeners. So then, the last clinical question, Dr. Gaillard, what treatment options are available for patients without a clinical response to neoadjuvant chemotherapy? Dr. Stéphanie Gaillard: Yeah, this is a tough situation. And so it's important to remember that ovarian cancer typically does respond to chemotherapy initially. And so it's unusual to have progressive disease to neoadjuvant chemotherapy. So it's really important that if someone has progressive disease that we question whether we really have the right diagnosis. And so it's important to, I think at that point, obtain another biopsy and make sure that we know what we're really dealing with. In addition, this is where Dr. Tew mentioned getting the molecular profiling and genetic testing early in the course of disease. If that hasn't been done at this point in time, it's worth doing that in this setting so that that can also potentially help guide options for patients. And patients who are in those situations, really, the options are other chemotherapy regimens, clinical trials may be an option, or in some situations, if they have really rapidly progressing disease that isn't amenable to further therapy, then initiation of end-of-life care would be appropriate. Brittany Harvey: I appreciate you both for reviewing all of these recommendations and options for patients with advanced ovarian cancer. So then to wrap us up, in your view, what is both the importance of this guideline update and how will it impact clinicians and patients with advanced ovarian cancer? Dr. Bill Tew: Well, first off, I'm very proud of this guideline and the panel that I work with and Dr. Gaillard, my co-chair. The guideline really pulls together nicely all the evidence in a simple format for oncologists to generate a plan and determine what's the best step for patients. The treatment of ovarian cancer, newly diagnosed, is really a team approach - surgeons, medical oncologists, and sometimes even general gynecologists - and understanding the data is key, as well as the advances in maintenance therapy and HIPEC. Dr. Stéphanie Gaillard: For my part, I'd say we hope that the update really provides physicians with best practice recommendations as they navigate neoadjuvant chemotherapy decisions for their patients who are newly diagnosed with ovarian cancer. There is a lot of data out there and so we hope that we've synthesized it in a way that makes it easier to digest. And along that regard, I really wanted to give a special shout out to Christina Lacchetti, who just put in a tremendous effort in putting these guidelines together and in helping to coordinate the panel. And so we really owe a lot to her in this effort. Dr. Bill Tew: Indeed. And ASCO, as always, helps guide and build a great resource for the oncology community. Brittany Harvey: Absolutely. Yes, we hope this is a useful tool for clinicians. And I want to thank you both for the large amount of work you put in to update this evidence-based guideline. And thank you for your time today, Dr. Gaillard and Dr. Tew. Dr. Stéphanie Gaillard: Thank you. Dr. Bill Tew: Thank you for having us. Brittany Harvey: And thank you to all of our listeners for tuning in to the ASCO Guidelines Podcast. To read the full guideline, go to www.asco.org/gynecologic-cancer-guidelines. You can also find many of our guidelines and interactive resources in the free ASCO Guidelines app, which is available in the Apple App Store or the Google Play Store. If you have enjoyed what you've heard today, please rate and review the podcast and be sure to subscribe so you never miss an episode.   The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions. Guests on this podcast express their own opinions, experience and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement.  

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

In this heartfelt and empowering episode of Healthy Mind, Healthy Life, host Avik delves into the transformative journey of Joelle Kaufman, a cancer survivor, caregiver, and author of the upcoming book Crushing the Cancer Curveball: A Playbook for the Newly Diagnosed, Their Family, and Friends. Joelle shares her personal story of resilience, how cancer shaped her perspective from a young age, and her mission to turn life's toughest curveballs into opportunities for growth and clarity. Whether you're navigating a health challenge, supporting someone who is, or seeking inspiration for life's hurdles, this conversation is packed with insights, hope, and a touch of humor. About the Guest: Joelle Kaufman is a powerhouse of resilience with a deeply personal connection to the world of cancer. Diagnosed in her youth and shaped by her journey as both a survivor and caregiver, Joelle has transformed her experiences into actionable wisdom. As the author of Crushing the Cancer Curveball, she offers a guide to those facing cancer and their loved ones, blending practical advice, emotional insights, and humor. Her mission is to empower others to navigate life's unpredictable challenges with grace and strength. Reach: https://joellekaufman.com/  Key Takeaways: The Cancer Filter: Joelle reveals the concept of the "cancer filter"—a transformative perspective that helps individuals focus on what truly matters in life. Navigating Uncertainty: Practical strategies for staying grounded during life's most unpredictable moments, from diagnosis to recovery. The Role of Humor and Positivity: How humor can be a surprising yet powerful tool for resilience during tough times. Empowering Support Systems: Insights into the importance of strong support networks for both patients and caregivers. Finding Strength in Vulnerability: Joelle shares her journey of learning to embrace vulnerability and how it has become a source of power in her life. Would you like me to expand on any of these points or add specific quotes from the episode?   Want to be a guest on Healthy Mind, Healthy Life? DM on PM - Send me a message on PodMatch, DM Me Here: https://www.podmatch.com/hostdetailpreview/avik  Subscribe To Newsletter: https://healthymindbyavik.substack.com/ Join Community: https://nas.io/healthymind Stay Tuned And Follow Us! YouTube - https://www.youtube.com/@healthymind-healthylife Instagram - https://www.instagram.com/podhealth.club/  Threads - https://www.threads.net/@podhealth.club Facebook - https://www.facebook.com/podcast.healthymind LinkedIn - https://www.linkedin.com/in/newandnew/ #podmatch #healthymind #healthymindbyavik #wellness

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

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