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 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 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