Research area Rare Diseases

Rare diseases – not so rare all together!

Research Area generic

Studying rare diseases caused by genetic mutations that lead to chronic and life-threatening symptoms.


Rare diseases are those that affect less than 1 in 2,000 people. While an individual disease might be labeled as “rare”, the total number of persons in Europe suffering from one of the over 7000 different identified rare diseases is estimated at over 30 million. In Luxembourg, there are approximately 30.000 individuals concerned by rare diseases. Nearly 80% of rare diseases are of genetic origin and many of them affect the brain. They are present throughout a person’s entire life, even if symptoms do not appear immediately.
For the development of novel therapies, it is essential to identify the underlying genetic cause and to understand the molecular mechanisms underlying the disease.

Research groups