Genome sequencing, in particular exome sequencing, plays a key role in clinical practice and guides personalized precision medicine, which aims at improving patient management, also through the prediction of drug response. From a research point of view, next generation genomic sequencing (NGS) platforms allow us to expand our genomic analyses, providing the tools to explore the functional and clinical relevance of the mutations affecting non-coding regions of our genome.

Many rare diseases are genetically heterogeneous, which means that identical or very similar clinical pictures can be caused by mutations in different genes. In these cases, it is often impossible to focus our analysis directly on a specific gene; vice versa, NGS allows for the simultaneous analysis of gene panels, which are groups of genes related to a specific clinical picture (e.g., the dozens of genes responsible for retinitis pigmentosa or genetic deafness).

The project is aimed at the creation of a laboratory that will host a NGS platform. NGS tests allow for the analysis of the whole genome or of its entire coding portion (the exome), without limiting the investigation to the genes that are more frequently mutated in a specific disease, thus improving the success rate of the analyses, automating the activity of the laboratory, and significantly reducing the costs of the diagnosis of inheritable diseases or of those with a large genetic component, for the benefit of patients with rare diseases and of the undiagnosed ones.

The objective of this project is to create an integrated high-tech infrastructure through the introduction of advanced NGS platforms and with the training of highly specialized interoperable physicians and healthcare professionals, to avoid the scattering of resources in terms of personnel and technologies.

Thanks to this approach, all investigations based on NGS platforms, including those for research projects, are carried out at a single center, thus avoiding the loss of data generated by the sequencing, the redundancy of equivalent platforms in the laboratories of each specialist branch of laboratory medicine or research center, and the duplication of investigations.

In this way, we will be able to provide a service of excellence at our Hospital, that can become an international reference hub for the other pediatric centers and hospitals, to which we will provide our expertise in the field of genomic sequencing.

2,000,000 EUR