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Medicine & Health

Down syndrome: Genome 21 project

We explore new therapeutic approaches to improve the quality of life of people with trisomy 21 in the field of intellectual disability.

Genomic and post-genomic analysis of chromosome 21

What we have achieved

In 2014, we began a systematic study by identifying metabolic alterations, and after formulating a therapeutic hypothesis, we aim to conduct trials with folic acid in humans.

€ 1,115
Funds raised to date
€ 10,000
2024 Target

Description

Down syndrome is the most common genetic abnormality (affecting 1 in 700 newborns) characterised by the presence of an extra copy of chromosome 21 that results in intellectual disability, while maintaining affectivity and sociality intact.

The Genome 21 project, which represents one of the most extensive clinical-experimental scientific research on the subject in Italy, involves 280 children with trisomy 21 aged between 3 and 16.

We work on the hypothesis that intellectual disability is linked to specific metabolic alterations and that restoring a metabolic balance can influence cognitive functions.

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Goals

  1. Identifying and characterising new genes located in the critical region for Down syndrome, also using the CRISPR/Cas9 system

  2. Systematically studying the scientific work of Jérôme Lejeune

  3. Investigating the relationship between genes (genotype) and physical characteristics (phenotype) to identify cellular functions altered by the presence of the extra copy of chromosome 21, and suggest targeted therapies

Impact

  • Proposing a clinical trial that can improve people's quality of life

  • Stimulating research for finding a cure and not only, as is generally the case, for prenatal diagnosis

Project Team

Collaborators

  • Dr. Chiara Locatelli, Prof. Guido Cocchi

    Operative Unit of Neonatology, Policlinico S.Orsola-Malpighi, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy

  • Prof. Silvia Lanfranchi, Prof. Renzo Vianello

    Department of Developmental Psychology and Socialisation, University of Padua, Padua, Italy

Down syndrome is the most common genetic anomaly (affecting 1 in 700 live newborns).

In 1959, Prof. Jérôme Lejeune discovered that the cause was the presence of three copies of chromosome 21 (trisomy 21). Inspired by his research, in 2014 we launched a systematic study, confirming that only a small part of the chromosome is linked to the syndrome. We have also detected specific metabolic alterations, paving the way for targeted folic acid therapies.

The relationship between genes (genotype) and physical characteristics (phenotype) can help identify cellular functions altered by the presence of the extra copy of chromosome 21 and suggest targeted therapies to correct them.

The trial involves the use of a particular folic acid that can positively influence psychomotor development and cognitive abilities.

Funding for research in this area is generally directed towards prenatal diagnosis of the syndrome and is, instead, scarce for experimentation. Our project focuses on seeking to find a cure, which is why every contribution is essential to support our research, which is currently more than 90% funded by donations.

We thank those who have chosen to make a donation

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You can make your donation online or by money order. If you do not have an Italian tax code or would like to donate more than €10,000, please contact us.

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