The Project

The project aims to simultaneously use different platforms (clinics, bioinformatics, biomechanics ...) in order to make the genotype/phenotype correlation more reliable in a large cohort of patients affected by neuromuscular diseases, studied through new generation techniques, thus helping the clinician in the definition of treatment plans, in monitoring the disease progression and, therefore, in the patients’ care.
Read more...

Partners

Institute of Clinical Physiology
National Research Council

Founded in Pisa in 1968 to study the pathophysiology of the cardiovascular system and related organs, the Institute of Clinical Physiology has become a pioneer of the process of “translation” of physiological observations and measurements at molecular and cellular levels towards knowledge, new therapies, guidelines, with positive consequences on the clinical practice and citizens’ health. The staff, accounting for more than 500 employees, includes a multidisciplinary team working on a wide variety of scientific fields, including medicine, biology, physics, chemistry, engineering, computer science, psychology, statistics, etc.

Biorobotic Institute
School of Advanced Studies "S. Anna"

High quality education, frontier research and exploitation of research results: this is the mission of the Biorobotics Institute of the Sant'Anna School of Advanced Studies. The Institute, a university center of excellence founded in 2011, has built over the years a wide wealth of knowledge and skills in various sectors of biorobotics, including social robotics, industrial robotics, assistance robotics, rehabilitation robotics, surgical robotics, neural engineering, cognitive systems, bio-inspired robots and all the related ethical, legal, social and economic implications.

"Stella Maris" Foundation
IRCCS

The Stella Maris Foundation is a complex, multi-professional institution (about 300 employees and many students), hosting clinicians, researchers and internationally-known university professors, using advanced technologies and methods to assist the most burdensome disorders that can affect a human person during his/her development. The Laboratory of Molecular Medicine for Neurodegenerative Diseases was established in 2010 as an evolution of the Neurogenetics Laboratory, established in 1999 as a scientific and technological development of neurobiology to investigate the role of genetics in the field of neuropsychiatry.

The philosophy of ADATEC is based on direct collaboration and interaction with the customer to conceive, design and produce innovative electronic systems and optimized solutions. ADATEC believes in the collaboration and continuous exchange of ideas with the customers, and merges old analysis tools with the latest digital technologies.

ARCHA was founded in Pisa in 1989, aimed at creating a state-of-the art laboratory, with novel instrumentation and qualified personnel. It is nowadays a reference center for enterprises involved into innovation: it is a qualified partner for designing, R&D, start-up and engineering of innovative projects

Smart Source srl is a company that operates in the field of intermediate distribution of pharmaceuticals since 2012. UNI EN ISO 9001: 2008 certified, it is specialized in the supply of drugs, parapharmaceuticals, medical devices, as well as in highly specialized services for hospitals

Subcontractors

Kode is a scientific consultant in the field of data science. It provides support to enterprises and institutions, aimed at properly and strategically using all the information owned by those third parties or part of their respective operative field

TIGEM is a research institute in the field of rare genetic diseases established by Telethon Foundation in 1994 in Milan to promote the advancement of research aimed at the diagnosis, prevention and treatment of rare human genetic diseases