Understanding the genetic basis and clinical implications of Hutchinson-Gilford progeria syndrome, cystic fibrosis, and sickle cell disease

Abstract

This article investigates the genetic basis of diseases caused by mutations in DNA, Hutchinson-Gilford Progeria Syndrome (HGPS), Cystic fibrosis (CF), and Sickle cell disease (SCD). The study aims to examine the causes, symptoms, and treatments of these genetic diseases alongside the specific mutations that disrupt protein production and cellular functions. By conducting an extensive review of scientific literature and case studies, this research underscores the significant impact of genetic mutations on human health, manifesting as various symptoms and treatments. Furthermore, the essay discusses the importance of early detection, consistent monitoring, and regular medical care for individuals with genetic diseases. In conclusion, this project emphasizes the significance of raising awareness and education on genetic disorders to enhance public health while advocating for continued research to develop effective therapies and potential cures.