What is your role in the 5000genomi@VdA project? And that of the Istituto Italiano di Tecnologia (IIT)?
As part of the project, I am the scientific director and Principal Investigator (PI) for the research area dedicated to neurodevelopmental and neurodegenerative diseases. I am also part of IIT, which is the lead partner for the research centre’s scientific and administrative management.
Where do the ideas underlying 5000genomi@VdA and CMP3VdA come from?
This project is the result of a tangible need: reducing the gap that currently exists between theoretical clinical knowledge and its application in the diagnosis and treatment of certain diseases. In fact, today, technology is evolving very fast, but unfortunately the validation of new discoveries and their adoption in hospital systems are not so rapid.
What are the principal goals for 5000genomi@VdA?
The 5000genomi@VdA project has objectives that are both ambitious and important for patients and the community.
First of all, there is the desire to include genomics, namely the study and detailed analysis of an individual’s genetic code by DNA sequencing, into clinical practice. The integration of this data into the patient’s “health care record of the future” will become the key to supporting healthcare professionals in the decision-making process, involving first diagnostics, and then treatment.
Secondly, there is research, and the discovery of the fundamental genetic mechanisms that affect the onset and progression of cancer and diseases of the nervous system, which, after having been correctly classified and typified, could be useful in implementing the development of new, personalised, more effective treatments for individual patients and society at large.
To achieve this, a complex infrastructure has to be constructed, both physical – for which the CMP3VdA research centre and the “Biobank” at the U. Parini Regional Hospital will be pivotal – and information-technology and computationally-oriented. More specifically, ongoing contacts between researchers, physicians and IT engineers will be fundamental, and these specialists will try to create a virtuous process for the satisfactory collection and storage of samples, along with the generation and interpretation of molecular and clinical data.
How was your research group formed, and on which diseases will its work be focused?
Even though the research teams are purposely not “predefined” but are as flexible as possible, the researchers and scholarship students in my team will be concentrating principally on the areas of neurodegenerative (Parkinson’s) and neurodevelopmental (autism) disorders, the field in which I principally developed my scientific experience. They will work on the identification of genes coding for non-coding RNAs and mobile genetic elements (in other words those sections of DNA, once defined as “junk DNA”, non coding directly for proteins but which are actually used to regulate protein production). More specifically, some team members will be involved in the management of the various aspects of the biobank, in close cooperation with the Parini hospital and the local health authority (AUSL VdA), while others will analyse patient data by means of the genomic platform and computational analysis.
Why were neurodegenerative, neurodevelopmental and oncological diseases chosen instead of other illnesses?
The interest in these three groups of disorders is derived principally from a combination of healthcare, scientific and social benefits. In general, there is a growing need to classify and create clusters of patients sharing similar clinical features in order to formulate increasingly targeted and specific therapies for every type of disorder. This concept is best defined in oncology, in which the concept of “personalised medicine” according to the tumour’s genetic profile and molecular characteristics has been familiar for years, and for which highly significant therapeutic results are being obtained. As regards neurodegenerative disorders (whose annual incidence is constantly increasing) and neurodevelopmental diseases, scientific research and the treatments currently available are not as advanced, and so there is a growing need for a detailed genomic and clinical patient characterisation.
(interview: Sept 2020)