RESEARCH AREAS

•  Statistical Methodology: Regression models, causal inference (with both frequentist and Bayesian approaches), graphical models (DAGs), time-to-event analysis, longitudinal data analysis, mediation and interaction analysis, analysis of randomized clinical trials (e.g., Intention-to-treat, Per-Protocol), predictive models. Mendelian Randomization methods. Network and path analysis.

•  Medical Statistics: Design and analysis of observational, longitudinal, experimental, or retrospective studies using biomedical and psychological data, including clinical data, psychological questionnaire data, EEG traces, etc.

•  Genetic Statistics and Bioinformatics Epidemiology: Design and analysis of genetic, epigenetic, gene expression, and sequencing studies for the study of complex and rare diseases, using case-control or family studies.

BRIEF DESCRIPTION OF RESEARCH PROJECTS

Supervisors: Prof. Luisa Bernardinelli and Dr. Teresa Fazia

Contacts: For further information, potentially interested candidates can contact Prof. Luisa Bernardinelli (luisa.bernardinelli@unipv.it) and Dr. Teresa Fazia (teresa.fazia@unipv.it)

Location: Università degli Studi di Pavia - Dip. Di Scienze del Sistema Nervoso e del Comportamento. Unità di Statistica Medica e Genomica

PROJECT 1: Study of the impact of genetic variability, biochemical markers, environmental factors, and lifestyle on the risk of onset and progression of multiple sclerosis using UK Biobank data

Genetic and non-genetic factors are closely intertwined in determining the complex pathogenetic puzzle involved in the onset and progression of Multiple Sclerosis. This project will analyze UK Biobank data, aiming to determine to what extent genetic (including the polygenic risk score) and non-genetic factors can be directly or indirectly (mediated effects) associated with the risk of MS onset, delaying or accelerating the onset of the disease, and the progression of the disease in affected individuals. Non-genetic factors include environmental/ecological exposures such as: any previous infectious disease (e.g., pollution, oral contraceptive pill use, EBV), lifestyle (e.g., diet, exercise), early life factors (e.g., month of birth, maternal smoking, childhood obesity, breastfeeding as a child) and other factors like age at menarche.

Classical statistical methods such as the Cox model, even with time-dependent covariates, as well as multistage models to study disease progression, will be used. Genetic and genomic data will also be analyzed.

_______________________________________________________________________________________

PROJECT 2: The practice of meditation in the elderly: intervention modalities and benefits

With the aging of the global population, it is increasingly essential to understand how to support the elderly in maintaining and deepening their psychological well-being. The purpose of our study is to test whether the practice of meditation can improve important dimensions of well-being, slow cognitive decline, reduce inflammation levels, and improve the tolerance of chronic pain, a typical problem in the elderly. The idea is to plan a randomized study where participants are randomly assigned to a treated group and a control group. Randomization allows for causal inferences about the treatment effect. The planning of the study will be a very important step as another goal is to identify mediators of the treatment effect.Data analysis will be done within the framework of causal analysis, including mediation, moderation, and mechanistic interaction analysis. The project will also involve the development of a meditation intervention tailored to the elderly population by the meditation trainer.

_______________________________________________________________________________________

PROJECT 3: Study of the effect of meditation on physiological and behavioral parameters: analysis of psychological scales and EEG data in a sample of students

The purpose of this project is to evaluate the beneficial effects of a meditation intervention on a series of psychological parameters, including stress and anxiety, and physiological parameters. Two randomized groups of students, the treated (meditation) and the untreated (passive control), will be compared. An important part will be the design of the study, as our perspective is one of causal inference in which the planning and then the execution of the study in the field are fundamental. Psychological scale data, EEG traces to assess whether the meditation intervention modifies brain waves and influences brain activity, as well as changes in heart and respiratory rate, will be analyzed. Finally, the relationship between physiological and behavioral parameters and the identification of strata of subjects who benefit most from meditation will be evaluated.

_______________________________________________________________________________________

PROJECT 4: Free Topic

The Ph.D. student may propose a research topic outside those listed above, provided it concerns randomized experimental studies including the evaluation of the effectiveness of interventions in medicine and psychology, case-control and cohort observational studies in the field of environmental health, psycho-physical well-being, genetic, genomic, and environmental etiology of diseases.The application of classical and more innovative statistical methods will be an important aspect of the research activity.

_________________________________________________________________________________________________

Supervisor: Prof. Davide Gentilini

Contacts: davide.gentilini@unipv.it

Location: Università degli Studi di Pavia - Dip. Di Scienze del Sistema Nervoso e del Comportamento. Unità di Statistica Medica e Genomica

Project 1: Study of Endometriosis in Italy

Context: Endometriosis, a complex gynecological pathology, affects women of reproductive age, but its exact causes are still unclear, representing a significant clinical and research challenge.

Objective: This study aims to identify genetic markers associated with endometriosis through an in-depth analysis of genetic data collected from Italian women affected and not affected by the disease. The ultimate goal is to provide new information on the pathogenesis and potential therapeutic targets.

Methodology: Initially, DNA samples will be collected from women affected by endometriosis and healthy women, along with detailed information on their phenotype. Subsequently, the samples will be subjected to genotyping or sequencing using the latest generation technologies. The genetic data will then be analyzed through advanced bioinformatics approaches, including regression and association models, to identify genetic variants associated with the disease. Approaches to understand the genetic and molecular interactions involved in endometriosis will also be explored.

_______________________________________________________________________________________

Project 2: Prolongation of the QT Interval in Athletes

Context: QT interval prolongation is a phenomenon observed in some athletes, raising concerns about the possible presence of long QT syndrome, a potentially dangerous condition that can lead to ventricular arrhythmias and sudden death.

Objective: This study aims to investigate the genetic and epigenetic causes of QT interval prolongation in athletes, in order to identify predictive biomarkers and understand the pathophysiological mechanisms underlying this condition.

Methodology: A genetic and epigenetic analysis will be conducted on athletes with and without QT interval prolongation during physical exercise, using a variety of molecular and bioinformatics techniques. The collected data will be subjected to advanced statistical analysis, including genetic association for common and rare variants, to identify genetic and epigenetic factors related to the observed phenotype. Functional insights will also be conducted to understand the role of genetic variants and epigenetic modifications in the pathophysiology of QT interval prolongation.

_______________________________________________________________________________________

Project 3: High Altitude Arterial Hypertension

Context: People living at high altitudes may be exposed to high levels of hypoxia, which can affect their blood pressure and the risk of developing arterial hypertension, but the underlying mechanisms remain unclear.

Objective: This study aims to examine the role of genetic and epigenetic adaptation to hypoxia in populations living at high altitudes, in order to identify new therapeutic targets and prevention strategies for arterial hypertension.

Methodology: Genetic and epigenetic data will be collected from subjects living at different altitudes, along with detailed measurements of blood pressure and cardiovascular risk factors. The data will then be analyzed using advanced statistical approaches, including genetic association tests and epigenetic variance analysis, to identify genetic and epigenetic factors associated with arterial hypertension. Regression models will also be explored to better understand the interactions between genetic, epigenetic, and environmental factors in the regulation of blood pressure.