Human genetics of neurological disorders


Group leader

Federica Esposito


The main focus of the laboratory is the study of the genetic factors involved in complex neurological diseases and their interaction with clinical and environmental factors. For this purpose, we integrate different layers of information, including whole genome profiling (genetic and transcriptomic) and clinical characteristics of each subject to better understand the pathophysiological mechanisms that contribute to the disease. We believe that this multi-disciplinary approach contributes to disentangle the complexity of the disease, elucidating processes that could be relevant in the identification of novel therapeutic targets, as well as in the field of personalized medicine.

Research activity

Our main interest is on Multiple Sclerosis (MS) although other neurological disorders are currently studied such has neuropathic pain and other neurodegenerative diseases.

The laboratory hosts a group of scientists with different expertise (biologists, bioinformaticians and neurologists); it takes advantage of a strong collaboration with the Neurological Department, allowing a precise clinical characterization of studied subjects, and of a large biobank of more than 3,000 patients affected with MS, about 1,000 patients affected with neurodegenerative disorders and 800 healthy controls. We have a strong experience in MS pharmacogenomics field, with several studies performed to identify biomarkers of response to different MS treatments.

Moreover, the laboratory is currently active in two projects funded by EU: The MultipleMS and the Pain-NET projects.

  • The first one is aimed to develop novel personalized medicine approaches for MS patients by integrating clinical information, molecular data and exposure to environmental factors in a cohort of tens of thousands of subjects.
  • The second project is aimed to better investigate and identify new biomarkers of chronic pain and analgesic responsiveness using a combined approach (next generation sequencing, epigenetics and proteomics).