Rare Disease Focus: Kidney and Urinary Diseases +++

LEARNING CENTER Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts https://checkrare.com/optimizing-therapeutic-proteins-through-pegylation/ Professors João Gonçalves and Paolo Caliceti discuss how PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins. Learn About WHIM Syndrome https://checkrare.com/learn-about-whim-syndrome/ WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene. Fabry Disease https://checkrare.com/fabry-disease-podcast-series/ Fabry disease is a lysosomal storage disease characterized by insufficient alpha-galactosidase (alpha-GAL). Dr. William Burns, Dr. Nicola Longo, and Maya Kineen discuss diagnosis and personalized treatment plans.