A Rose for Genome 21

As part of the Framework Agreement between our Foundation and Alma Mater Studiorum – University of Bologna, an Implementation Agreement for «A Rose For Genome 21» project has signed.
The project supports the “Genome 21” scientific research program led by Prof. Pierluigi Strippoli of the Department of Specialized, Diagnostic and Experimental Medicine (DIMES) of the University of Bologna. «Genome 21» envisages a systematic clinical-experimental study of trisomy 21, based on the integration of clinical, biochemical, genetic, and bioinformatic data. The goal is to identify new means of treatment for the intellectual disability associated with this form of trisomy.
The aim is to detect specific markers for Down syndrome that can become targets for innovative therapies. Discovering the “critical region” for Down syndrome was a fundamental step for the research, and new objectives have been defined in the light of this discovery.


Characterization of the highly-restricted region critical for Down syndrome

The project – which entails international collaborations – aims to analyze this region in detail in order to identify new genes of chromosome 21 that are hypothesized to be essential for the manifestation of Down syndrome. To date, no functional genes have been described in HR-DSCR. Trisomic cell models for chromosome 21 will be used to identify them: fibroblasts and induced pluripotent stem cells.



Metabolic profile in biological samples from people with Down syndrome.

By studying 50 children with Down syndrome and 50 control subjects, the plasma analysis focuses in particular on the metabolites of the metabolic pathways known as the one-carbon cycle and the folate cycle. In order to identify possible targets of a therapeutic intervention, specific alterations in the metabolism will be detected and associated with certain genes located in chromosome 21, in particular in the “critical region”.