Genetic and Rare Disorders

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene or multiple genes or by a chromosomal abnormality.

Rare Disorders

The European Union defines a disease or condition as rare if it affects fewer than 1 in 2,000 people within the general population. Currently, there are over 6,000 known rare diseases and new conditions are being described through medical literature on a regular basis.

Most rare diseases currently have no effective treatment.

8 out of 10 rare diseases have a genetic cause and 99% of genetic conditions are classed as rare. Often rare diseases are chronic and life-threatening. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.

On average, it takes over four years to receive an accurate diagnosis of a rare disease.

Mitochondrial Disorders

Mitochondria are the parts of our cells which create energy for the cells to function. If cells within parts of the body do not have enough energy then they cannot work properly. Certain organs and tissues in the body such as the heart and brain require a lot of energy to work. Therefore, it is important that they have enough energy to work properly.

For someone with a mitochondrial disease, the mitochondria within their cells are not producing enough energy. They may not be working as efficiently as normal, or others may not be working at all.

The impact of a mitochondrial disorder varies between individuals depending on how many cells are affected and where they are in the body.

Page last reviewed: 6 September, 2021