Selected Projects


An integrated omics approach for patients with rare neurological disorders: towards personalized clinical care and trial readiness

Rare neurological diseases (RNDs) are a group of disorders characterized by the selective degeneration of specific neuronal populations.

They impose an enormous burden on the patients, their families and society, but the current diagnostic and subsequent therapeutic management is still highly unsatisfactory for a large proportion of RND patients.

Regione Lombardia has an overall number of approx. 13,000 living RND patients, representing almost 50% of all rare diseases in the region.Thus, there is an urgent need of understanding the mechanisms underlying these disorders, in order to maximize the possibilities of developing clinically effective therapies.

Given the internationally recognized expertise of the applicant’s institution in each of the disorders covered by the ERN-RND, our project aims at creating a wide and complementary network of Regione Lombardia based CoEs that, aggregating high-level expertises in clinics, genetics, new ‘omic technologies, and neuroscience, will allow to implement in the Regione Lombardia health system the four ‘P’s model of personalized medicine for these disorders:

1) Prediction and prevention of disease;

2) More precise diagnoses;

3) Targeted and personalised interventions;

4) A more participatory role for patients.

Consortium: 5 partners from 1 country

Coordinator of the project: Fondazione IRCCS Istituto Neurologico "Carlo Besta", Italy

Funding programme: Fondazione Regionale per la Ricerca Biomedica (FRRB)

Project start: 1st January 2020

End date for the project:  31st December 2022



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