Medical genetics
Overview
Medical genetics is a branch of medicine that involves the diagnosis and management of genetic disorders. It encompasses studies of the inheritance of diseases in families, mapping of disease genes to their chromosome locations, diagnosis of genetic disorders, clinical management of genetic disorders, counselling of families for conditions that are inherited, and calculation of risk for recurrence in affected individuals and their families.
History
The history of medical genetics dates back to the 19th century with the pioneering work of Mendel who conducted experiments on pea plants, establishing the basic principles of genetics. This was followed by the discovery of the deoxyribonucleic acid (DNA) structure by Watson and Crick in 1953, which laid the groundwork for understanding the molecular basis of genetics.
Genetic Disorders
Genetic disorders are diseases that are caused by abnormalities in an individual's genome. These disorders can be categorized into single gene disorders, chromosomal disorders, and complex disorders.
Single Gene Disorders
Single gene disorders are caused by mutations in the DNA sequence of a single gene. Examples include cystic fibrosis, sickle cell disease, and Huntington's disease.
Chromosomal Disorders
Chromosomal disorders are caused by changes in the number or structure of chromosomes. Examples include Down syndrome, Turner syndrome, and Klinefelter syndrome.
Complex Disorders
Complex disorders are caused by a combination of genetic and environmental factors. Examples include heart disease, diabetes, and cancer.
Genetic Testing
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. These tests can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.
Genetic Counselling
Genetic counselling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.
Future of Medical Genetics
The future of medical genetics is promising with advancements in technologies such as genome sequencing, gene therapy, and CRISPR-Cas9 gene editing.
