Podcasts about newly diagnosed

Featuring perspectives from Prof Nicoletta Colombo and Dr Kathleen N Moore, including the following topics: Introduction (0:00) Promising Novel Agents and Strategies Under Investigation in Ovarian Cancer (2:35) Current Management of Newly Diagnosed and Relapsed/Refractory Ovarian Cancer(41:48) CME information and select publications

Year in Review: Clinical Investigator Perspectives on the Most Relevant New Datasets and Advances in Ovarian Cancer | Faculty Presentation 1: Current Management of Newly Diagnosed and Relapsed/Refractory Ovarian Cancer — Angeles Alvarez Secord, MD, MHSc CME information and select publications

Dr. Maya Graham interviews Dr. Lauren Schaff on her manuscript entitled "Ibrutinib in combination with rituximab, methotrexate, vincristine, and procarbazine (R-MVP/i) for newly diagnosed primary CNS lymphoma (PCNSL)," published in Neuro-Oncology in January 2026.

Dr. Jasmin Jo interviews Dr. Amy Smith and Dr. David Ellison on their manuscript, entitled "Phase 3 randomized trial of post-irradiation chemotherapy in patients with newly diagnosed ependymoma, a report from the Children's Oncology Group" published in Neuro-Oncology in December 2025.

This week I'm talking with Dr. Lynyetta Willis about navigating the journey when a child is newly diagnosed with a neurodifference. A psychologist turned family coach, Lynyetta specializes in empowering women in their relationships, as well as combines her foundation in psychology and trauma healing with best practices in empowerment coaching to help her clients strengthen their parenting, partnerships, and personal growth to create joyful, connected, and harmonious families.  There are so many things I could have talked about with Lynyetta, but I wanted to dig into what happens to a couple, and a family, when a child is newly diagnosed — an often challenging and real process for many parents of differently wired kids. We talk about the sister emotions of grief and guilt, the importance of self-compassion and self-care in the process, how to handle different reactions in partnerships, and more.  About Lynyetta Dr. Lynyetta G. Willis, psychologist and family empowerment coach, helps frustrated families break unhelpful patterns and cross-generational cycles so they can move from stable misery into peaceful harmony. She helps her clients and audiences learn to strengthen their parenting, partnership, and personal growth practices so they can feel harmony in their hearts and homes.   What You'll Learn in this Episode: The difference between practicing clinical psychology and coaching work What are the common emotions after a diagnosis and how to process them in a healthy way Lynyetta's PATHS framework: Perspective, Awareness, Tools, Healing, Self-Empowerment Tips for getting on the same page as parenting partners What is meant by the term “stable misery” Learn more about your ad choices. Visit podcastchoices.com/adchoices

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/EBAH/AAPA information, and to apply for credit, please visit us at PeerView.com/GKD865. CME/MOC/EBAH/AAPA credit will be available until January 4, 2027.Redrawing Frontlines in MCL: The Upfront Expansion of BTKi Options & Modern Clinical Decision-making in Newly Diagnosed 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 Mantle Cell Lymphoma. 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 an independent educational grant from AstraZeneca.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/EBAH/AAPA information, and to apply for credit, please visit us at PeerView.com/GKD865. CME/MOC/EBAH/AAPA credit will be available until January 4, 2027.Redrawing Frontlines in MCL: The Upfront Expansion of BTKi Options & Modern Clinical Decision-making in Newly Diagnosed 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 Mantle Cell Lymphoma. 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 an independent educational grant from AstraZeneca.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/EBAH/AAPA information, and to apply for credit, please visit us at PeerView.com/GKD865. CME/MOC/EBAH/AAPA credit will be available until January 4, 2027.Redrawing Frontlines in MCL: The Upfront Expansion of BTKi Options & Modern Clinical Decision-making in Newly Diagnosed 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 Mantle Cell Lymphoma. 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 an independent educational grant from AstraZeneca.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/EBAH/AAPA information, and to apply for credit, please visit us at PeerView.com/GKD865. CME/MOC/EBAH/AAPA credit will be available until January 4, 2027.Redrawing Frontlines in MCL: The Upfront Expansion of BTKi Options & Modern Clinical Decision-making in Newly Diagnosed 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 Mantle Cell Lymphoma. 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 an independent educational grant from AstraZeneca.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/EBAH/AAPA information, and to apply for credit, please visit us at PeerView.com/GKD865. CME/MOC/EBAH/AAPA credit will be available until January 4, 2027.Redrawing Frontlines in MCL: The Upfront Expansion of BTKi Options & Modern Clinical Decision-making in Newly Diagnosed 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 Mantle Cell Lymphoma. 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 an independent educational grant from AstraZeneca.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/EBAH/AAPA information, and to apply for credit, please visit us at PeerView.com/GKD865. CME/MOC/EBAH/AAPA credit will be available until January 4, 2027.Redrawing Frontlines in MCL: The Upfront Expansion of BTKi Options & Modern Clinical Decision-making in Newly Diagnosed 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 Mantle Cell Lymphoma. 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 an independent educational grant from AstraZeneca.Disclosure information is available at the beginning of the video presentation.

Wellness House of Annapolis' Director of Counseling and Programs - Emma Rogers - says for those of us going through cancer, recently diagnosed with cancer, or have suffered the loss of someone from cancer… the joy of the holiday season exists in stark contrast to what they may be feeling…

Send us a textIn this episode, we discuss what we would tell our newly diagnosed selves about living with IBD. We emphasize the importance of seeking help early, understanding inflammation, and finding trustworthy resources. We also discuss the role of nutrition in managing IBD and the empowerment that comes from being informed and proactive in one's health journey.Takeaways-- Seek help early so that you have a supportive plan.- Understand that inflammation can exist without symptoms.- Regular monitoring of inflammation is crucial.- Low appetite and weight loss need to be assessed by your provider.- Find trustworthy resources and support systems.- Empower yourself with knowledge about your condition.- Nutrition plays a vital role in managing IBD.- You have a role in your treatment plan.You can find our Flare Guide here:

Recently diagnosed with ADHD as an adult? Learn what to do next, including how to learn the skills, and find the support you need. The post Newly Diagnosed With Adult ADHD? Here's What's Next. appeared first on Marla Cummins.

In today's episode, we had the pleasure of speaking with Marc S. Raab, MD, about the post-induction outcomes and updated minimal residual disease (MRD) analyses from the phase 2 MajesTEC-5 study (NCT05695508), which is evaluating teclistamab-cqyv (Tecvayli)–based induction regimens in patients with newly diagnosed multiple myeloma. Dr Raab is a professor of medicine at Heidelberg University in Germany.

Dr Hajra is a GP and aesthetic doctor who was diagnosed with breast cancer in 2025, aged 37. In this episode of the Breast Cancer Now podcast, Hajra talks to Laura about the shock of her recent diagnosis, the effects of the chemotherapy treatment she's undergoing, and the treatment plan coming up, including a double mastectomy. Hajra also shares the differences in experiencing cancer as a doctor, compared with as a patient, and the surprising ways it's affected her. She tells Laura about her BRCA gene mutation, and how that news affected her outlook on her breast cancer diagnosis. You can find Dr Hajra on Instagram @drhajrasdiary If you'd like to find out more about Breast Cancer Now's support services, visit the Breast Cancer Now website or phone our free helpline on 0808 800 6000 (UK only). You can subscribe to this podcast on Spotify, Apple Podcasts, or wherever you get your podcasts. Every episode is available to watch or listen to on the Breast Cancer Now website. You can also watch it on YouTube. Key Topics: 1:56 Hajra's work as a GP and aesthetic doctor 6:23 Practising breast awareness as a doctor 9:02 Biopsies and scans, as a doctor 16:18 Receiving biopsy results with friends and family 18:09 Hajra is diagnosed with triple negative breast cancer 19:19 The treatment plan for Hajra's breast cancer 20:26 Being treated as a patient rather than as a doctor 21:40 Hajra is the first in her family with breast cancer 22:14 The physical effects of chemotherapy 23:42 Genetic testing for breast cancer gene mutations 29:03 Coping with the impact of a gene mutation diagnosis 33:22 Breast cancer treatment and fertility 39:22 The effect of chemotherapy on physical apperarance 44:57 Hajra's plan for aesthetic treatments after chemotherapy 47:28 Thoughts on the upcoming double mastectomy 50:15 Mental health and breast cancer treatment 53:17 Working during treatment for breast cancer 54:53 The importance of sharing your story 56:43 What it means to Hajra to "live well"

In this week's episode we'll learn more about a study comparing busulfan-melphalan with melphalan alone as the conditioning protocol for newly diagnosed, transplant-eligible multiple myeloma; then we will discuss data on how three-dimensional transcriptomics can reveal complex interactions between plasma cells and bone marrow microenvironments.Featured ArticlesHigh-dose busulfan-melphalan vs melphalan and reinforced VRD for newly diagnosed multiple myeloma: a phase 3 GEM trialProfiling the spatial architecture of multiple myeloma in human bone marrow trephine biopsy specimens with spatial transcriptomicsPreclinical advances in glofitamab combinations: a new frontier for non-Hodgkin lymphoma

Please visit answersincme.com/MPD860 to participate, download slides and supporting materials, complete the post test, and obtain credit. In this activity, an expert in myelodysplastic syndromes discusses strategies for the management of FLT3-mutated acute myeloid leukemia. Upon completion of this activity, participants should be better able to: Summarize guideline recommendations for the treatment of newly diagnosed, FLT3-mutated acute myeloid leukemia (AML); Recognize the clinical significance of the evidence for approved FLT3 inhibitors in the first-line treatment of newly diagnosed, FLT3-mutated AML; Formulate strategies to maximize the impact of FLT3 inhibitors in the management of patients with newly-diagnosed, FLT3-mutated AML.

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.

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

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.

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 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)

Tuesday, April 15, 2025 – Week 16   CURRENT NEWS #Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas!    Board Announcement: https://www.eurekalert.org/news-releases/1080490   LEARNING ABOUT SYNGAP1 ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.   Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674 YT https://youtu.be/VBWa0FklYJs   Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/   Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A  For instance, these won't repair, but they will will upregulate... = make work harder. MORE NEWS In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla! https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/   SIBLINGS Tell your story, please for the other ones. https://curesyngap1.org/syngap-siblings/shanaye-worth/ https://curesyngap1.org/sibling-support/   PUBLICATION COUNT PubMed is at 17 YTD, 325 in total (trending to 52+, but I'm not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 4,009 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,369 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 169 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, April 9, 2025 – Week 15   Condolences to the Brimsek family and thank you John & Tobi for all your support.  We just shared an interview with our board member and John's son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories    Trip Report, two crazy days.  Many takeaways.  Trials may be coming soon.  If there is a trail, sign up.  Every time. khuba@jcu.edu    Do the Frazier Study and do the follow-ups!  https://curesyngap1.org/eye2 Global as well.  Australia, UK, Canada, please help.   We are busy too!  DiMe announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU    Census is 1,581!  https://curesyngap1.org/blog/syngap1-census-2025-update-q1/   Impact report has a webinar! https://cureSYNGAP1.org/Impact    Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44   Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill    We have one space available in Colorado on May 20, 2025, email Lauren@curesyngap1.org to sign up.   Other blog about the CB Roadshow, please join us there https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/   And the Polish Community speaking out about ASO trials: https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/   #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $66,383 https://www.youtube.com/watch?v=IW7owIsdjss   Bowie - Our funding goes far: https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181    Also see this from CZI, featuring SYNGAP1 in Dr. Willsey's work https://www.czbiohub.org/life-science/unlocking-biology-autism/   PubMed is at 17 YTD, 324 in total (trending to 52+, but I'm not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,996 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,391 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 168 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, March 26, 2025 – Week 13 #S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever.  Don't miss it, or the comments.  Feel free to add to them!   One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia.  Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8   Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/ PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/    #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss   Getting to know our community: - Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories  - Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/ - Sibling Story with Kallen https://cureSYNGAP1.org/Sibling  - DW of SRF AUS https://www.facebook.com/reel/1345989426605772 - Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25   - Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24    PubMed is at 13 YTD, 321 in total (trending to 52+, but I'm not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc   Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf   This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen   Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3   Thank you for the 15 glowing reviews of SRF on Great Nonprofits! https://www.cureSYNGAP1.org/GNP   VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,971 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,311 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,427 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 167 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS