Rare diseases: “France is lagging behind in birth screening”. Hélène Berrué-Gaillard, president of the Alliance Maladies Rares association, explains why France must strengthen its efforts in the field.

On the occasion of International Rare Disease Day, Catherine Vautrin, Minister of Labor, Health and Solidarity, is expected to announce on Thursday February 29 the first elements of a fourth rare disease plan. Only seven out of ten patients see a diagnosis made based on their symptoms. For 30% of them, genetic analyzes carried out did not find any identified mutation.