23^rd European Pathology Congress

Pathology of Genetic and Rare Diseases

Pathology of genetic and rare diseases encompasses the study of disorders rooted in genetic mutations or chromosomal abnormalities. These conditions, often inherited, disrupt normal cellular functions and manifest in various forms such as metabolic dysfunctions, developmental anomalies, and degenerative diseases. Advanced genomic technologies like next-generation sequencing (NGS) facilitate the identification of pathogenic variants, enhancing diagnostic precision and personalized medicine. Understanding these pathological mechanisms aids in developing targeted therapies and genetic counseling strategies, offering hope for improved patient outcomes and preventive measures. Research continues to unravel the complexity of these rare conditions, pushing the boundaries of medical science and treatment innovation.