Investigating genetic causes of neurological movement disorders

The aim of this thesis is to estimate the diagnostic yield of New gerneration sequencing data analysis in neurological movement disorders.
Investigation of the genetic background of patients will be performed by utilizing computational tools and algorithms and developing strategies for the identification of known and novel candidate disease-causing variants and genes. In other words, the major goal is to develop computational pipelines for the genetic diagnosis of patients affected with the conditions described above and to search for novel genetic causes. Genetic data will be thoroughly compared with clinical information (deep phenotyping) that is available on these patients, to define and even broaden the genetic spectrum of those neurological movement disorders.
The project investigates patients and families with Parkinson disease, ataxias, dystonias and other, rarer neurological disorders. It identifies known monogenic forms of disease, searches for novel disease genes and also investigates the possible interaction of more than one genetic factors in disease causation.