Monogenic diseases are diseases that are caused by the dysfunction of one of our genes. They are classified as rare diseases – that is, they occur with an incident rate of less than 5/10000 (i.e. less than 1 person in 2000 is affected). However, what makes rare diseases severe is that there are more than 8,000 different rare diseases, so the cumulative number of patients in the population is by no means negligible.

There are currently more than 8 000 known monogenic diseases. These include cystic fibrosis, fragility X syndrome, Huntington’s chorea, spinal muscular atrophy, Marfan syndrome, haemophilia, Charcot-Marie-Tooth syndrome, neurofibromatosis and many others.