Scientific Sessions

Pediatric genetics is a rapidly evolving field that focuses on understanding the hereditary and molecular basis of diseases affecting children. Genetic insights are critical for diagnosing, managing, and preventing a wide range of conditions, from congenital anomalies and chromosomal disorders to rare inherited syndromes. Advances in genomic technologies, including whole-exome and whole-genome sequencing, have enabled early and precise identification of genetic mutations, allowing for timely interventions and personalized care. Early genetic counseling empowers families with knowledge about disease risk, inheritance patterns, and available therapeutic options, improving both clinical outcomes and psychosocial support.

Rare diseases and metabolic syndromes, although individually uncommon, collectively impact millions of children worldwide and often require specialized, multidisciplinary care. Conditions such as lysosomal storage disorders, inborn errors of metabolism, and mitochondrial diseases can significantly affect growth, development, and quality of life. Recent breakthroughs in enzyme replacement therapy, gene therapy, and targeted pharmacological treatments have transformed the management of these complex disorders. Additionally, newborn screening programs and advanced metabolic testing allow for early detection, reducing morbidity and preventing long-term complications. Collaboration among geneticists, metabolic specialists, dietitians, and pediatricians ensures comprehensive care that addresses both medical and lifestyle needs. With ongoing research and innovation, pediatric genetics and metabolic medicine continue to advance, offering hope for improved diagnosis, treatment, and long-term outcomes for children with rare and complex conditions.