Bernard Polak*
Genetic disorders, caused by anomalies in genes or chromosomes, have profound implications for individuals and families. The landscape of diagnosis and treatment for these conditions has dramatically evolved over the past few decades, driven by advancements in molecular genetics, genomics, and biotechnology. This review discusses recent advancements in the diagnosis and treatment of genetic disorders, highlighting key technologies, methodologies, and therapeutic strategies that have emerged.Genetic disorders can be broadly categorized into three types: single-gene disorders, chromosomal disorders, and multifactorial disorders. Single-gene disorders, such as cystic fibrosis and sickle cell anemia, are caused by mutations in a single gene. Chromosomal disorders, such as Down syndrome, result from abnormalities in chromosome number or structure. Multifactorial disorders, including conditions like diabetes and heart disease, arise from the interaction of multiple genes and environmental factors. The World Health Organization (WHO) estimates that genetic disorders affect approximately 1 in 10 individuals globally, making it crucial to enhance diagnostic and therapeutic strategies.
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