Rare diseases research

Rare Diseases are often of genetic origin, usually chronically debilitating or even life-threatening. It is estimated that there are some 6,000 to 7,000 different rare diseases. However, patients affected with a particular rare disease in any one country are scarce, as also are the specialised clinicians. The causes of the disease are very often poorly understood, diagnosis is often delayed and for the majority of Rare Diseases therapeutic
options are minimal or non-existent. However, the impact on the quality of life of affected patients (of whom, many children) and their family members is significant.