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October is Rett Syndrome Awareness Month 💜 Rett syndrome is a neurodevelopmental condition characterized by normal psychomotor development during the first 6 to 18 months of life, followed by the development of severe problems with language and communication, learning, coordination, and other brain functions. This month, join us in recognizing the importance of continued research, multidisciplinary care, patient advocacy, and education. Learn more at checkrare.com/rett-syndrome-… #RettSyndromeAwarenessMonth #RettSyndrome #Rett #RareDisease

What should you know about myasthenia gravis? From understanding the underlying disease mechanisms to exploring FDA-approved treatment options and ongoing clinical research, staying informed is essential for the rare disease community. The Myasthenia Gravis Disease Learning Center brings together educational information and resources to help patients, caregivers, and healthcare professionals better understand this complex condition. Explore the learning center: checkrare.com/myasthenia-gra… #MyastheniaGravis #RareDiseaseEducation #HealthcareProfessionals #ClinicalResearch #PatientEducation

What's the latest research in rare liver conditions? Get updates from The Liver Meeting 2026 and more on this week's episode of The CheckRare Brief at checkrare.com/highlights-fro…

Johan Maertens, MD, PhD, Professor of Hematology at University Hospitals Leuven (UZ Leuven) in Belgium and Principal Investigator of the OASIS study, discusses positive phase 3 trial results evaluating oral olorofim in patients with invasive aspergillosis. View the full interview at checkrare.com/phase-3-oasis-…

🧬 A new chapter in gene therapy for spinal muscular atrophy (SMA). How is Itvisma changing the treatment landscape for people living with SMA? In this CheckRare feature, John Day, MD, PhD, of Stanford University, discusses the development of this one-time gene therapy, its targeted delivery approach, and clinical trial findings on motor function. Discover what this advancement could mean for the future of SMA treatment. 🔗 Read the full article: checkrare.com/itvisma-gene-t… #CheckRare #SpinalMuscularAtrophy #SMA #RareDisease #GeneTherapy #MedicalInnovation

Could 3D printing help transform treatment options for rare diseases? This week on The CheckRare Brief, explore this emerging approach alongside a new HAE treatment formulation and an FDA approval for recurrent respiratory papillomatosis. 🎙️ Listen to this week’s rare disease news roundup: checkrare.com/3d-printed-tre… #RareDiseaseResearch #DrugDevelopment #CheckRare

The National Organization for Rare Disorders (NORD) is hosting a free "Living Rare, Living Stronger" event in South Florida on Dec. 4, for rare disease patients, families, caregivers, and health care advocates. Connect with others on similar journeys and learn about locally available resources and opportunities. Register here: livingrare.org/florida/

Mitchell Geffner, MD, Children’s Hospital of Los Angeles, discusses pediatric adrenocortical insufficiency. Learn about the etiology, diagnosis, and management of PAI at checkrare.com/overview-of-ar… #CheckRare #RareEndocrine #PediatricAdrenalInsufficiency #PAI

Episode 13 of The CheckRare Brief is live! Listen at checkrare.com/gambling-on-cl…

From C5-targeted therapies to myasthenic crisis management, AANEM 2026 brought forward important discussions on the evolving treatment landscape for generalized myasthenia gravis (gMG). Explore the highlights with CheckRare: checkrare.com/generalized-my…

Episode 3 of Rare Endocrine Exchange is out now! Hosted by Margarita Ochoa-Maya, MD, and with guest Katherine Arakay, MD, we discuss clinical trials for rare endocrine disorders, examined from three perspectives: patients, clinical researchers, and sponsors. Listen now at checkrare.com/clinical-trial…

🦓 Zebras spotted at #NORDSummit 1: Laquinta Jernigan, Sarrah May, and Miriam Dervan from @mdgroupintl show off their zebra scarfs 2: Zebras at the @AlexionPharma AstraZeneca booth 3 & 4: Custom rare disease jacket from Seth Fritts of @AcadiaPharma

NORD Breakthrough Summit | Day 2 @RareDiseases Vice President of Community and Medical Affairs, Marybeth McAfee moderates a panel, "Rare Disease Centers of Excellence in Action: Advancing Diagnosis, Care, and Research," featuring leaders from three leading Centers of Excellence: - Beth Kozel, MD, PhD, Chief of the Division of Genetics and Genomic Medicine, @nationwidekids - John A. Morren, MD, MEd, FAAN, FAANEM, Director of the Neuromuscular Center, @ClevelandClinic - Eyby Leon, MD, Program Director of the Medical Genetics Residency and Medical Geneticist, @ChildrensNatl #NORDSummit #NORD #RareDisease #RareDiseaseResearch

CNBC's @BeckyQuick, rare disease mom, co-anchor of Squawk Box, and host of CNBC Cures, moderates a high-level CEO discussion on "The Next Decade of Rare Disease: A CEO Leadership Dialogue." The panel features: - Renee Gala, President and CEO, @JazzPharma - Pamela Gavin, MBA, President and CEO, @RareDiseases - Alexander Hardy, President and CEO, @BioMarin - Tarek Rabah, President and CEO, @OtsukaUS #NORDSummit #RareDisease #RareDiseaseLeadership

NIH Director Jay Bhattacharya, MD, PhD, discusses the importance of including patients, families, and caregivers in the NIH's work. " We need to give greater attention to the viewpoints from patients and families." #NORDSummit #RareDisease #PatientVoice

FDA Acting Commissioner Kyle Diamantas discusses how the FDA plans to incorporate the voices and experiences of people living with rare diseases into its decision-making. #NORDSummit #RareDisease #PatientVoice

CheckRare is proud to once again partner with the @RareDiseases NORD Breakthrough Summit, connecting with leaders who are advancing the rare disease community. We look forward to learning from inspiring voices like Pam Gavin, President & CEO of NORD. #NORDSummit #RareDisease #BecauseRareMatters

CheckRare is excited to report on the latest rare kidney disorder developments from ASN Kidney Week 2026 in Denver, Colorado. Keep an eye out for our coverage from the meeting #KidneyWk

Are you tuning in to the NORD Breakthrough Summit, October 26 and 27? You can still register to virtually attend this annual gathering of the national rare disease community—featuring CNBC’s Becky Quick and the leaders of the FDA and NIH—from wherever you are right now. Join us: nordsummit.org/?utm_source=c…

🧬 Advancing research in hypochondroplasia Phase 3 results from the CANOPY-HCH-3 trial show that vosoritide improved annualized growth velocity compared with placebo in children with hypochondroplasia. Researchers also reported improvements in arm span. These findings represent an encouraging step toward understanding new potential treatment options for people living with hypochondroplasia. Learn more from CheckRare: checkrare.com/efficacy-of-vo… #Hypochondroplasia #Vosoritide #RareDiseaseResearch #ClinicalTrials #RareDiseaseAwareness #RareMusculoskeletal

💜 October is Rett Syndrome Awareness Month The Rett syndrome landscape is always evolving, and better diagnostic understanding and novel treatment options are continuing to improve patients outcomes. Learn about the latest in treatments and clinical developments at checkrare.com/rett-syndrome-… #RettSyndromeAwarenessMonth #RettSyndrome #Rett #RareDisease