11.2022 - 02.2026

Ricerca di varianti genetiche come fattori di rischio per i disturbi dell’umore e psicotici

The study aims to identify genetic variants that may represent risk factors for mood disorders and psychotic disorders and to study the possible correlations of these variants with specific phenotypes. 600 patients diagnosed with schizophrenia or bipolar disorder (typeI or type II) according to the DSM-5 criteria, confirmed through the MINI International Neuropsychiatric Interview structured clinical interview (version 7.0.2), will be included in the study. Where available, their unaffected first-degree family members will also be recruited. Biological samples from around 200 patients are already available. They will therefore have to be recruited – over a period of approximately two years – another 400 (approximately 80 per centre, possibly 40 diagnosed with schizophrenia and 40 diagnosed with bipolar I or type II disorder). Patients should be aged 18 to 65 years and comply with the following exclusion criteria: (a) history of head trauma with loss of consciousness, (b) moderate, severe or extreme intellectual disability, (c) ongoing neurological disease, (d) history of alcoholism or substance abuse within the last six months, (e) pregnancy, (f) inability to provide informed consent, (g) changes in psychopharmacological therapy and/or hospitalization for symptom flare-up in the 3 months prior to inclusion in the study.

1. The study of genetic variants allows the development of personalized and more effective therapies for patients with mood and psychotic disorders, improving drug response and reducing side effects via the use of pharmacogenetics.
2. The identification of specific genetic variants and biomarkers can promote early diagnosis and risk stratification for patients and their families, allowing targeted and more timely preventive interventions.
3. The characterization of relevant molecular mechanisms leads to the discovery of new pharmacological and therapeutic targets, allowing the development of drugs and innovative intervention strategies for various types of disorders. 

Settori Scientifico Disciplinari

MED/03  MEDICAL GENETICS

Spoke 5 : Mood and Psychosis