Rare Genetic Diseases

Rare genetic diseases (RGD) are a group of illnesses caused by an inherited genetic abnormality. They are usually caused by a single gene defect, and can affect any organ or system in the body. RGD may be more common than commonly thought, as 75% of all cases are caused by a single gene defect, and roughly 25-30% of cases are caused by two or more defects. Many of these conditions do not present typical signs or symptoms, and as such, they can be difficult to diagnose. Early diagnosis can be critical, as some of these conditions can have serious consequences if left untreated. Due to the wide range of symptoms, diagnosis is often done with genetic testing. Treatment of the disease is based on the specific symptoms and the extent of the condition. Management and treatment of these rare diseases relies heavily on genetic counseling and support, as well as medical and surgical interventions.