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Genomic and post-genomic analysis of human chromosome 21 in relation to the pathogenesis of trisomy 21 (Down syndrome)

People in charge: Prof. Pierluigi Strippoli and Dr. Lorenza Vitale
From left to right: Maria Chiara Pelleri, Lorenza Vitale, Pierluigi Strippoli, Maria Caracausi, Allison Piovesan

Our research group's goal is to systematically study the underlying genetic mechanisms of Down syndrome and then identify possible new therapeutic approaches.



On April 2016, our paper about the “critical region” for Down syndrome was published in the journal Human Molecular Genetics. The study suggests that a “critical region” responsible for the main symptoms of Down syndrome corresponds only to less than one thousandth of the whole chromosome 21. On February 14th 2018, our paper about Metabolome in Down syndrome has been published in the journal Scientific Reports. Metabolic alterations specific of trisomy 21 have been reported.

These results pave the way for the research, in the "critical region", of genes associated with specific alterations of metabolism in Down syndrome, the function of which might become the target for a specific therapy.

NEW OBJECTIVES - 2019-2021

1. Identification and characterization of new genes localized in the “critical region” for Down syndrome identified on chromosome 21 in our recent study, also using the CRISPR/Cas9 system

2. Systematic study of scientific work of Jérôme Lejeune, discoverer of trisomy 21

3. Study of genotype-phenotype correlation in Down syndrome through the analysis of data related to clinical symptoms, transcriptome and metabolome of individuals with trisomy 21

Our new 2019 Project may be downloaded by clicking on the "21 Project 2019" file ("Downloads" section on the right side of this page).


Funding for this research was impacted in part by the limited availability of funds for experimental research, but also by the fact that so many studies are focused on prenatal diagnosis of the syndrome rather than on its treatment. For this reason, every contribution is critical to support our Laboratory's research activities.


For donations exceeding the amounts allowed by the “Donate now” system, instructions can be found in the attached files downloadable by clicking on the right side of this page.

"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).

Main collaborators:

Prof . Guido Cocchi, Dott.ssa Chiara Locatelli. Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy

Prof. Marco Seri. Medical Genetics Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy

On-line donations



Pierluigi Strippoli

Associate Professor

Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale

Via Belmeloro 8

Bologna (BO)

tel: +39 051 20 9 4117

tel: +39 051 20 9 4113