Our goal is to obtain the most accurate information that we know will fundamentally affect individuals' lives and to provide clinicians with the most reliable advice for their decisions.

Please enter subscribe form shortcode

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.