In 1959 the French doctor Jerome Lejeune identified the cause of DS as the presence of 3 copies of human chromosome 21, instead of the normal 2, in the cells of the affected individuals. This condition has been called trisomy 21. This discovery gave the origin to the field of medical genetics. Studying in detail the mechanism of the syndrome becomes possible, in particular how the presence of an extra chromosome 21 can be associated with the symptoms, in view of a possible pharmacological intervention as a therapy for trisomic subjects. Prof. Lejeune firmly believed in the possibility to find a therapy, currently investigated by a limited number of research groups.

"We will beat this disease. It's inconceivable that we won't. It will take much less intellectual effort than sending a man to the Moon. If I find out how to cure trisomy 21, than that would clear the way for curing all the other diseases that have a genetic origin." (Jérôme Lejeune, 1926-1994).

On April 22nd 2016, the team supervised by Dr Pierluigi Strippoli (https://www.unibo.it/sitoweb/pierluigi.strippoli/en) published a paper about the “critical region” for Down syndrome in the Human Molecular Genetics. The study suggests that the region responsible for the main symptoms of Down Syndrome corresponds to only one-thousandth of the whole chromosome 21.

Funding for this research was influenced by limited availability of funds for local experimental research and by the intense efforts toward prenatal diagnosis oriented to selective abortion rather than toward basic and applied research aimed at finding effective therapies. For this reason, every contribution is crucial to support the research activities of the Laboratory.