A genetic disorder is any disease/condition that is caused by an abnormality in an individual’s genome, the person’s entire genetic makeup contained within our cells.
Some of these genetic abnormalities can lead to cancer, while others lead to various other health conditions.Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene’s instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.
Acquired genetic disorders refer to conditions caused by acquired mutations or changes in parts of the DNA. These conditions only become heritable if the mutation occurs in the germline. To what extent a person suffers form a genetic condition may be determined to some degree by environmental factors.Advances in our understanding of the human genome have led to the identification of various genes and gene products as well as improving our understanding of gene expression, its regulation and how these factors interact in genetic disorders.
Improved understanding of the human genome is also gradually demonstrating that almost all diseases have a genetic component. These mutations may not necessarily manifest as disease and may only cause symptoms in the presence of environmental toxins. For example, cigarette smoke can raise the risk of lung cancer in susceptible individuals. Other genetic disorders are congenital and affect a person from the moment they are born. Some disorders are inherited but may only affect a person later in life, such as Huntington’s disease, a neurodegenerative disorder where the typical age-of-onset is 35 to 44 years.
Genetic disorders can also be multi-factorial inheritance disorders, meaning they are caused by a combination of several mutations and environmental factors. Conditions as common as heart disease and diabetes are now considered to be multi factorial disorders.