Journal of Genomics and Precision Medicine
Rare Genetic Disorders
Rare genetic disorders encompass thousands of conditions caused by mutations in single genes, chromosomal abnormalities, or complex genomic interactions. Although individually uncommon, collectively they affect millions of people worldwide and often present diagnostic challenges due to their diverse symptoms and variable severity. Advances in genomic sequencing have revolutionized the detection of rare disorders by enabling rapid identification of pathogenic variants. Early diagnosis is critical, as it guides clinical management, informs treatment options, and provides families with essential genetic counseling. Research in this field focuses on understanding molecular mechanisms, developing gene-based therapies, and identifying targeted interventions. Precision medicine offers new hope through approaches such as gene editing, enzyme replacement therapy, and personalized drug strategies.
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