Genomic and post-genomic analysis of human chromosome 21 in relation to the pathogenesis of trisomy 21 (Down syndrome)
Our research group's goal is to systematically study the underlying genetic mechanisms of Down syndrome and then identify possible new therapeutic approaches.
NEWS FROM THE RESEARCH
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 - 2018-2020
1. Identification and characterization of new genes localized in the “critical region” for Down syndrome identified on chromosome 21 in our recent study
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
4. Development and use of innovative computational biology tools for the meta-analysis of data
