Jérôme Lejeune, the discovery of trisomy 21 and the search for a cure of Down Syndrome

Speaker

• Pierluigi Strippoli: Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale (DIMES)- Alma Mater Studiorum - Università di Bologna

Abstract

People with Down Syndrome (DS) have  intellectual disability, whereas affectivity and social skills are conserved. 
DS was attributed to a "degeneration of the race" until 1959, when Jérôme Lejeune identified the cause of DS as the presence of three copies of human chromosome 21 (trisomy 21).
Prof. Lejeune firmly believed in the possibility to find a therapy, currently poorly investigated. In the last years, we have suggested that a “critical region” responsible for the main symptoms of DS corresponds to only one thousandth of the whole chromosome 21.
We have also demonstrated specific alterations of metabolism in children with DS, a possible basis for a biochemical cure of intellectual disability based on the one-carbon cycle.