There are approximately 8000 different rare diseases, affecting 6% or about 350 million people in the world. The quality of life of patients and families with rare diseases is often compromised by the lack of a correct molecular diagnosis, leading to risk of wrong diagnosis and inaccurate treatments. To ensure access to appropriate treatments and quality personalized health care, more information about the whole life perspective of the disease is needed.
The rare diseases group study rare diseases both clinically and at the molecular level to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and understand disease biology. The long-term goal is to identify biomarkers and to develop personalized therapeutics in order to improve the quality of life for individuals with rare diseases.