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

The coordinator of this project is Fondazione IRCCS Istituto Neurologico "Carlo Besta". The Principal Investigator responsible of the project is Dr. Franco Taroni.

 Pathology of interest:

 Rare neurological disorders

 Area of research:


 Start date:

 January 1, 2020

 End date:

 December 31, 2022 (extended until November 30, 2023)


 € 3.500.000,00

 Project partners:

 - Fondazione IRCCS Istituto Neurologico "Carlo Besta" – leading partner
 - IRCCS Eugenio Medea
 - Istituto di Ricerche Farm acologiche Mario Negri IRCCS
 - Università degli Studi di Milano
 - Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico


The Consortium proposing this project gathers experts from complementary areas to generate knowledge to improve diagnosis, prevention, and treatment on Rare Neurological Diseases (RNDs). RNDs represent almost 50% of all rare diseases, with a relevant burden for patients, their families, and the public health system. Rapid advances in clinical knowledge in recent years have been facilitated by the progress of genetic and other diagnostic technologies, helping us to develop a deeper understanding of diseases and their causes. The huge heterogeneity of RND at a time of rapid clinical innovation requires new methodological approaches to improve diagnosis, care and treatment opportunities.

The primary goal of this proposal is the development and implementation of a Personalised Medicine approach for RNDs, in order to maximize the possibilities of developing clinically effective therapies. To this end, we will select RND patients, classifying them based on deep clinical phenotyping and collecting biological samples for integrated genomic and transcriptomic analysis, and for proteomic, metabolomic and secretomic studies. By applying integrated “multiomics” strategies in relevant patient biological samples the project has these final goals: 1) to make precise diagnosis available to most RND patients; 2) to make most RND patients potentially ready for treatment; 3) to provide new insights into the underlying mechanism s of RNDs, which may reveal novel therapeutic targets that are susceptible to pharmaceutical interventions and/or gene therapy. Our research program will be transformative in the RNDs medical field, thus allowing to deliver diagnostic tests for most rare diseases by 2020 and to provide the Regione Lombardia health system with cutting-edge biomedical tools which will improve the well-being of patients with RNDs and will make Regione Lombardia highly competitive for both international research projects and networks and Cross-Border Healthcare.


A press release from the Coordinator can be downloaded here: care4neurorare_-_comunicato_stampa

Project website: