80 % of rare diseases have a genetic origin and affect about 6-8% of the population which represent an important public health challenge. Individual genetic diseases are relatively rare and consequently characterized by some common challenges in providing quality medical treatment, especially in small countries such as Slovenia. These common challenges are:
1. identification of a disease in a timely manner,
2. incorrect medical treatment at the beginning and
3. the possibility of preventing the disease is reduced due to frequent inadequate information on the genetic nature of the disease.
Doctors (at all levels of the health system) as well as patients and their families often encounter significant obstacles in finding assistance for both – getting a correct diagnosis when being affected by rare disease, as well as establishing connection with a specialized reference center.
In order to provide the superior health care for patients with rare diseases, Center for Undiagnosed Rare (CURDs) operates within the CIMG.