Journal of Tropical Diseases & Public Health

Genomic Technologies for Rare Disease Diagnosis and Personalized Therapeutics

2nd International Conference on Rare Diseases and Orphan Drugs

February 16-17, 2026 | Rome, Italy

Jong-Won Kim

Seoul National University, South Korea

Scientific Tracks Abstracts: JTD

Abstract:

Genomic medicine has become an essential component of rare disease diagnosis and treatment by enabling the identifica tion of pathogenic variants responsible for inherited disorders. This presentation reviews recent advances in next-genera tion sequencing, transcriptomics, and multi-omics technologies that support earlier diagnosis and personalized therapeutic interventions. Clinical applications of precision medicine, newborn genomic screening, and biomarker-guided treatment strategies are highlighted through representative case studies. The presentation also discusses the growing role of artificial intelligence in genomic interpretation, international data-sharing initiatives, and collaborative research networks that ac celerate therapeutic discovery. Future innovations in genome editing and personalized therapeutics are expected to improve diagnostic accuracy and expand treatment options for patients with rare genetic diseases.

Biography :

Jong-Won Kim is an internationally recognized medical geneticist specializing in genomic medicine, molecular diagnostics, and rare inherited disorders. His research integrates advanced genomic technologies into clinical practice to improve di agnosis and personalized treatment for patients with rare diseases. He has authored numerous scientific publications and actively collaborates with international research networks