Home / Patient information / Genetics and hereditary diseases / Basic concepts of genetics / What are genetic diseases?

Genetic diseases are diseases caused by changes in DNA, our genetic material.

An individual is healthy when all cells in their body perform their functions correctly. To do so, they need that all proteins of a cell act the way they should. When a mutation occurs in a gene, it can disrupt the normal function of a protein, leading to the development of a genetic disease.

These diseases can sometimes run in families and be passed down from generation to generation. A doctor who specializes in genetics can help identify if this is the case by taking a detailed family history. However, some genetic diseases can appear unexpectedly in a family, that is without previous cases of a genetic disease, due to a spontaneous mutation that happens in an individual for the first time, which is called a de novo mutation.