martes, 2 de septiembre de 2025

Overview of Epigenetics and Epigenomics in Lysosomal Disorders ++++

Overview of Epigenetics and Epigenomics in Lysosomal Disorders https://checkrare.com/learning/p-grids2024-session2-overview-of-epigenetics-and-epigenomics-in-lysosomal-disorders/ Nahid Tayebi, PhD, Andrew Lieberman, MD, PhD, Andrés D. Klein, PhD, and David Smerkous, AI PhD, recognize the applications of AI and Genomics in the diagnosis of lysosomal disease and explain the epigenetic mechanisms in lysosomal storage disorders. CREDITS: 1.25 CME | DURATION: 1.25 hours EXPIRES: 12/31/2025 | FEE: $0 Epigenetic and Epigenomics Signature in Lysosomal Disorders Pathology https://checkrare.com/learning/p-grids2024-session3-epigenetic-and-epigenomics-signature-in-lysosomal-disorders-pathology/ Detlev Boison, PhD, Dominique P. Germain, MD, PhD, Juozas Gordevicius, PhD, and Mia Horowitz, PhD, explain the epigenetic mechanisms in lysosomal storage disorders and recognize the epigenetic inactivation of the autophagy-lysosomal system in Parkinson’s disease. CREDITS: 1.25 CME | DURATION: 1.25 hours EXPIRES: 12/31/2025 | FEE: $0 Epigenetic Modifiers as Therapeutic Targets https://checkrare.com/learning/p-grids2024-session4-epigenetic-modifiers-as-therapeutic-targets/ Katarina Trebušak Podkrajšek, PhD, Ali Beskok, PhD, Ying Sun, Professor, and Majdolen Istaiti (Joleen), B.Sc., MBA, analyze the development and delivery of ERT in neuronopathic Gaucher disease and explain the impact of the misfolding of the mutant glucocerebrosidase on the phenotypic heterogeneity of Gaucher disease. CREDITS: 1.25 CME | DURATION: 1.25 hours EXPIRES: 12/31/2025 | FEE: $0 Understanding the Global Differences in Lysosomal Disorders for Patient Care https://checkrare.com/learning/p-grids2024-session5-understanding-the-global-differences-in-lysosomal-disorders-for-patient-care/ Krista Casazza, PhD, RD, CSSD, Uma Ramaswami, FRCPCH, MD, Ida Vanessa D. Schwartz, MD, PhD, and Leyla Namazova-Baranova, MD, PhD, discuss the global overview of lysosomal disorders, epigenomics and geographic variations, state the global changes in MPS epidemiology and related biology as revealed by transcriptomic studies, and review the Phenotypic spectrum of Gaucher disease in populations from South America. CREDITS: 2.00 CME | DURATION: 2.00 hours EXPIRES: 12/31/2025 | FEE: $0

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