Human Genetics

Genetic Disorders explores how genetic variations influence the development, progression, and outcomes of diseases. It encompasses monogenic disorders, caused by single-gene mutations with straightforward inheritance patterns, and complex diseases, influenced by multiple genes and environmental factors. Mutations, including point mutations, insertions/deletions, and chromosomal abnormalities, underlie many conditions. Genetic testing identifies variations contributing to disease risk, enabling personalized medicine, which tailor’s treatments to genetic profiles. Advances in gene therapy, population screening, and genetic counseling enhance prevention and treatment strategies. By studying genetic contributions to diseases, researchers aim to improve diagnosis, develop targeted therapies, and support informed healthcare decisions for individuals and populations.

• Duchenne Muscular Dystrophy is an X-linked recessive genetic disorder that causes progressive muscle weakness and degeneration, primarily affecting males. It results from mutations in the Dystrophin gene, which is crucial for maintaining muscle cell structure.

• Cystic fibrosis: A recessive disorder that affects the lungs and digestive system

• Hemochromatosis: A recessive disorder that causes iron overload • Huntington disease: A dominant disorder.