Analysis of the structural genome changes as a diagnostic and prognostic parameter of human diseases

The main subject of the project is genetic basis of hereditary neurological diseases, psychiatric diseases and prostate cancer. This research will be based on the collections of clinically well characterized patients using up-to-date molecular biological methods. Mutations in more than 25 genes associated with hereditary motor and sensory neuropathy, progressive myoclonic epilepsy, amyotrophic lateral sclerosis, spinal muscular atrophy and myotonic dystrophy type 2 will be examined. Expected results will deliver molecular-diagnostic algorithms, genotype-phenotype correlations, molecular-epidemiological studies, development of national patients’ registries and the founder effect and natural history of the diseases. Using case-control studies and meta-analyses the association of polymorphisms in serotonergic and RNA editing genes with schizophrenia, bipolar disorder, major depression and suicidal behavior will be examined, while the association of polymorphisms identified by genome wide association studies will be analyzed as genetic susceptibility factors for prostate cancer. The project results will contribute to elucidation of underlying molecular pathological mechanisms and will have a great social impact, allowing the use of genetic factors as new diagnostic and/or prognostic parameters necessary to set a precise diagnosis, give genetic counsel, assess disease risk and progression, use the appropriate therapy and predict therapy response.