The Role of Genomics in Understanding Rare Diseases

Abstract

Rare diseases affect millions of individuals worldwide, yet they often remain undiagnosed or misdiagnosed due to their complexity and scarcity. Genomics has revolutionized the understanding of rare diseases by enabling the identification of genetic mutations and molecular pathways responsible for these conditions. This paper explores the role of genomics in diagnosing, characterizing, and developing targeted treatments for rare diseases. Case studies and technological advancements, such as next-generation sequencing (NGS) and CRISPR, are highlighted, along with challenges and ethical considerations in genomics research.