A rare disease is a disease that occurs in one out of every two thousand people or less in a population, and there are currently more than 7,000 types of rare diseases. The role of genetics is crucial for the diagnosis of almost all rare diseases, but it also plays a role in understanding the underlying mechanisms and developing effective treatments.

Many rare diseases are caused by mutations in our genes and cause a wide range of symptoms and health problems. In some cases, rare diseases can be passed on to the next generation, but it is also possible for a person to develop a rare disease that has never appeared in their family tree. Duchenne/Becker Muscular Dystrophy (DMD/BMD) and Neuromyelitis Optica (NMO) are examples of rare diseases.

Genetic tests facilitate the diagnosis, follow-up and treatment of the disease; questions such as hereditary status, the possibility of symptoms that have not yet been seen, and what a person can do to protect their quality of life are largely answered and uncertainties are eliminated.