By Dr Lilia Romdhane, Assistant professor at the Faculty of sciences of Bizerte and researcher at Pasteur Institute of Tunis Genetic diagnosis in Tunisia, present situation and perspectives
By Prof. Ridha Mrad, professor of medical genetics at the faculty of medicine of Tunis and head of service of congenital and hereditary diseases at Charles Nicole Hospital
Rare diseases are illnesses that affect at least one person per 2000. There are more than 8000 different diseases. Each one affects a number of persons, but when taken together, all these diseases affect millions of persons in the world. 80% of rare diseases are genetic ones. In our country, they are common because of marriage between related persons. There are more than 400 different genetic diseases in Tunisia, which constitute a major public health problem. Despite the multiple efforts made during the last years, they are unfortunately still neglected.