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

Our research group aims to systematically study the genetic mechanisms underlying Down syndrome and thus identify possible new therapeutic approaches.

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

The research group: Maria Chiara Pelleri, Lorenza Vitale, Pierluigi Strippoli, Maria Caracausi, Allison Piovesan
From left to right: Maria Chiara Pelleri, Lorenza Vitale, Pierluigi Strippoli, Maria Caracausi, Allison Piovesan

In 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 to less than one one-thousandth of the whole chromosome 21; this new concept was confirmed by other data published in 2019.

On February 14th, 2018, our paper about the Metabolome in Down syndrome was published in the journal Scientific Reports. Metabolic alterations specific to trisomy 21 have been reported, further analyzed in a new 2020 article published in the same journal. We also resumed the studies of Prof. Lejeune on the importance of the one-carbon and folate cycles in trisomy 21, demonstrating in 2021 specific relationships between the monocarbon cycle and cognitive abilities in children with Down syndrome. 

We wrote (by invitation) the chapter on the genetics and genomics of Down syndrome in a new international book dedicated to the syndrome; we summarized the relevant work done by Prof. Lejeune and described our main results.

These results pave the way for research on genes in the critical region associated with specific metabolic alterations in Down syndrome. The gene’s function might become the target for a specific therapy.

A television report on our study (RAI - TGR Leonardo of 21/03/2018, in Italian) can be viewed by clicking here.

Research project:

Our new Project 2021-2022 can be downloaded in the "Documents" section of this page.

New objectives - 2021-2022

  1. Identification and characterization of new genes located in the critical region for Down syndrome have been identified on chromosome 21 in our recent study, which used the CRISPR/Cas9 system.

  2. Systematic study of the scientific work of Jérôme Lejeune, the discoverer of trisomy 21, in order to propose new clinical trials aimed at treating the intellectual disability associated with Down syndrome.

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

    Our new  project may be downloaded by clicking on the "Project 2022" file (link at the bottom of the page).


Funding for this research has been impacted in part by the limited availability of funds for experimental research. In addition, 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.


Instructions can be found in the file "Trisomy 21 Donations" downloadable from this page (please see below).
You can download the facsimile of the "Letter of Intent" for the cases in which it is required (please see below).

"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).

Principal Investigator

Research group

Francesca Antonaros

PhD Student

Research fellow

Maria Caracausi

Senior assistant professor (fixed-term)

Maria Chiara Pelleri

Associate Professor

Allison Piovesan

Senior assistant professor (fixed-term)

Beatrice Vione

PhD Student

Research fellow

Teaching tutor

Lorenza Vitale

Associate Professor

Main Collaborators

Caterina Gori, team member

Giuseppe Ramacieri, team membe

Dr. Chiara Locatelli, Prof. Guido Cocchi
Unità Operativa di Neonatologia, IRCSS di S.Orsola, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italia.

Prof. Silvia Lanfranchi, Prof. Renzo Vianello
Dipartimento di Psicologia dello Sviluppo e della Socializzazione, Università di Padova, Padova, Italia.