Genetics, Rare Diseases and Inborn Errors of Metabolism explores advances in genomic diagnostics, newborn screening expansions, and multidisciplinary care models that improve outcomes for children with rare and inherited conditions. This session is aimed at clinical geneticists, metabolic specialists, neonatologists, genetic counselors and pediatric subspecialists who manage complex diagnostic pathways and longitudinal care. Presentations will cover rapid whole-exome and whole-genome sequencing in neonatal and pediatric settings, variant interpretation frameworks, and the utility of multidisciplinary genomics boards to guide precision therapy. Translational sessions will highlight gene-targeted therapies, enzyme replacement, and small-molecule treatments—illustrating how diagnostics are increasingly paired with disease-modifying interventions.

Practical modules will address workflow integration: criteria for genomic testing, consent and counselling workflows, data-sharing considerations, and pathways for family cascade testing. Case-based learning will emphasise inborn errors of metabolism recognition—acute metabolic decompensation protocols, dietary and cofactor therapies, and long-term neurodevelopmental surveillance. Panels will evaluate newborn-screening policy, challenges in expanding panels across diverse populations, and pragmatic strategies to ensure timely follow-up for screen positives. Sessions on care coordination will discuss patient registries, telemedicine for specialty follow-up in remote areas, and transition planning for adolescents moving to adult genetic services.

Ethics and equity are recurring themes: access to expensive therapies, insurance and reimbursement barriers, and culturally sensitive counselling in communities with variable genomic literacy. Attendees of Pediatric rare Diseases Conference will leave with toolkits including testing pathways, emergency metabolic management checklists, multidisciplinary care-plan templates and consumer-facing resources to support families.