RARE DISEASE LEARNING CENTERS +++ +++ +++ +++

RARE DISEASE LEARNING CENTERS Rett Syndrome https://checkrare.com/rett-syndrome/ Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome. Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency https://checkrare.com/aromatic-l-amino-acid-decarboxylase-aadc-deficiency/ Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients. AADC deficiency is caused by defect in the dopa decarboxylase (DDC) gene, which leads to a reduction in the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin in the brain. WHIM Syndrome https://checkrare.com/whim-syndrome/ WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. The acronym “WHIM” stands for (W)arts, (H)ypogammaglobulinemia, (I)nfections, and (M)yelokathexis. Myelokathexis refers to an abnormal retention of white blood cells, in the bone marrow, that causes a reduction of immune fighting white blood cells, and most notably the reduction of neutrophils and lymphocytes. CME PROGRAMS Transforming Clinical Outcomes with Early Treatment of Lysosomal Disorders https://checkrare.com/learning/p-transforming-clinical-outcomes-with-early-treatment-of-lysosomal-disorders/ Ozlem Goker-Alpan MD, David F. Kronn, MD, Uma Ramaswami FRCPCH, MD, Liz Jalazo, MD, and Lindsay Torrice MSN, CPNP-PC, examine the evidence available to address how to monitor, and possibly treat, children with lysosomal diseases that were diagnosed by newborn screening or soon after birth. CREDITS: 1.00 CME | DURATION: 1 hour EXPIRES: 4/3/2026 | FEE: $0 Consider Rare: Suspecting and Diagnosing Hereditary Angioedema https://checkrare.com/learning/p-consider-rare-suspecting-and-diagnosing-hereditary-angioedema/ Jonathan A Bernstein, MD, Professor of Medicine at the University of Cincinnati describes the early symptoms of HAE and its clinical relevance and best practices to diagnose HAE more efficiently to reduce diagnostic delays. CREDITS: 0.5 CME | DURATION: 0.5 hours EXPIRES: 5/15/2026 | FEE: $0 Fabry Disease Research Highlights https://checkrare.com/learning/p-fabry-disease-research-highlights-2025/ Eric Wallace, MD, Professor of Medicine, Department of Nephrology at the University of Alabama Medical School, describes the latest research being presented to better manage individuals with Fabry disease and its clinical relevance. CREDITS: 0.5 CME | DURATION: 0.5 hours EXPIRES: 5/15/2026 | FEE: $0 GRIDS 2025: Current Issues in Gene Therapies for Lysosomal Disorders https://checkrare.com/learning/p-grids2025-session6-current-issues-in-gene-therapies-for-lysosomal-disorders/ Shunji Tomatsu, MD, PhD, Alessandra d’Azzo, PhD, Merve Emecen Sanli, MD, and Ryan Colburn, patient with Pompe disease and president of Odimm Inc, discuss new and emerging gene therapies for lysosomal disorders. CREDITS: 1.75 CME | DURATION: 1.75 hours EXPIRES: 12/31/2026 | FEE: $0 AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics https://checkrare.com/learning/p-grids2025-session1-ai-in-medicine-transforming-the-landscape-of-tissue-based-diagnostics/ Behzad Najafian, MD, Professor, Department of Laboratory Medicine & Pathology, Department of Medicine at the University of Washington, Washington, USA discusses the use of artificial intelligence in identifying and managing lysosomal disorders. CREDITS: 1.0 CME | DURATION: 1.0 hours EXPIRES: 12/31/2026 | FEE: $0 Nanotechnology and Lysosomal Disorders https://checkrare.com/learning/p-grids2025-session2-nanotechnology-and-lysosomal-disorders/ Stephan Stern, PhD, DABT, and Ruben Boado, PhD, Professor of Medicine, University of California at Los Angeles, California, discuss the use of nanotechnology in the treatment of lysosomal disorders. CREDITS: 0.75 CME | DURATION: 0.75 hours EXPIRES: 12/31/2026 | FEE: $0 Organoids and Lab-Grown Models in Lysosomal Disorders https://checkrare.com/learning/p-grids2025-session3-organoids-and-lab-grown-models-in-lysosomal-disorders/ Mia Horowitz, PhD, Tel Aviv University, Aitor Aguirre, PhD, Michigan State University, and Ying Sun, PhD, University of Cincinnati, discuss the use of organoid models in lysosomal disorder research and drug development. CREDITS: 1.5 CME | DURATION: 1.5 hours EXPIRES: 12/31/2026 | FEE: $0 Expanded Applications of AI in Lysosomal Disorders https://checkrare.com/learning/p-grids2025-session4-expanded-applications-of-ai-in-lysosomal-disorders/ Oral Alpan, MD, Svenja Keller, PhD student, University of Zurich, Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Patrick Deegan, MD, University of Cambridge, and Ravi Kamath, MD, PhD, Head of Musculoskeletal Radiology, Inova Health System, discuss the applications of AI in the diagnosis and treatment of lysosomal disorders. CREDITS: 2.0 CME | DURATION: 2.0 hours EXPIRES: 12/31/2026 | FEE: $0 Theranostics and Lysosomal Disorders https://checkrare.com/learning/p-grids2025-session5-theranostics-and-lysosomal-disorders/ Duarte C. Barral, PhD, NOVA University of Lisbon, Nuno Raimundo, PhD, Penn State College of Medicine, Betul Celik, PhD, Postdoctoral Fellow, Nemours Children’s Health, and Gregory Newby, PhD, Assistant Professor, Johns Hopkins School of Medicine, discuss the principles of theranostics and its application in lysosomal disorders.