EDUCATIONAL OBJECTIVES
The PhD Program in Human Biology and Medical Genetics aims to provide advanced training to graduates in the biomedical field (Medicine and Surgery, Biological Sciences, Biotechnology, and related disciplines), with the goal of developing scientific expertise in cellular and molecular biology and medical genetics. The training program is designed to shape highly qualified researchers capable of studying the molecular and cellular mechanisms underlying human physiology and pathology, and of applying this knowledge to diagnosis and the development of innovative therapeutic strategies.Particular emphasis is placed on the integration of basic and applied research, through an approach combining experimental activities and computational analyses.
The PhD program aims to train researchers able to acquire advanced knowledge in cellular and molecular biology and medical genetics; understand the molecular mechanisms underlying human diseases; apply advanced technologies; independently design and develop research activities; and contribute to molecular diagnostics and personalized medicine.
A key strength of the training program is the integration of wet-lab and computational biology experiences, aimed at developing researchers capable of managing both the design and execution of complex experiments and subsequent computational analyses in the context of research and diagnostics in medical genetics. This approach emphasizes careful planning of computational and biostatistical tools already at the experimental design stage.
The primary goal is to train young researchers by involving them in innovative, high-level research projects and fostering a rigorous, independent, critical, and creative mindset. Alongside experimental training, PhD students are encouraged to deepen their theoretical knowledge through extensive consultation of scientific literature and critical discussion of their research results in weekly seminars and annual presentations, conducted in English to enhance their scientific communication skills at an international level.
In addition to seminars organized within the PhD program, numerous interdisciplinary seminars and theoretical and practical courses are offered within the BeMM (Biology and Molecular Medicine) doctoral school, which brings together several PhD programs, including Human Biology and Medical Genetics. This environment promotes knowledge development in key areas of biology and genetics and encourages exchange and interaction with diverse scientific contexts. PhD students are also strongly encouraged to participate in national and international conferences and courses, supported by an individual budget provided by the PhD program.
Another primary objective is to equip students with the skills needed to produce scientific publications in high-impact journals. Internationalization is also a key objective, promoted by encouraging students to spend extended periods in research laboratories abroad.In addition, international faculty are invited to deliver lectures, seminars, and courses.
In conclusion, the PhD training program includes:
1. Presentation of an individual research project at the beginning of the program
2. Theoretical training through seminars and courses on molecular biology, cellular biology, and genetics
3. Continuous experimental activity in laboratories affiliated with the PhD program
4. Participation in regular seminars and journal clubs, including critical discussion of results
5. Participation in national and international conferences and workshops, with presentation of research data
6. Opportunities for training periods at foreign institutions
7. Periodic discussion of results and evaluation of project progress
8. Preparation and final defense of the PhD thesis
RESOURCES AVAILABLE TO PHD STUDENTS
Each PhD student has access to:
• an office workstation equipped with a computer
• cellular and molecular biology laboratories equipped with modern technologies for both basic and translational research, as well as human genetics and genomics laboratories dedicated to the study and management of genetic diseases through integrated molecular diagnostics and experimental research approaches
• hardware infrastructure for scientific computing and data storage (workstations, desktop computers, one HPC cluster, data storage servers, GPU cards)
• specialized software for statistical analysis, big data, Next Generation Sequencing data analysis, sequence and fragment analysis, machine learning, virtualization, molecular dynamics simulations, and workflow management systems
• advanced infrastructures and technological resources for research in biology, genetics, and genomics, supporting integrated approaches between molecular diagnostics and experimental research, with applications in cellular, molecular, and genomic fields
• access to specialized bibliographic resources through institutional subscriptions held by the University, Departments, and affiliated research centers
CURRICULA
The PhD in Human Biology and Medical Genetics is structured into two curricula, aimed at the integrated study of the molecular and cellular mechanisms underlying human physiology and pathology, as well as the genetic basis of diseases and their diagnostic and therapeutic applications.
HUMAN BIOLOGY
The curriculum aims to provide theoretical, methodological, and experimental expertise in the study of cellular and molecular mechanisms regulating cell function in physiological and pathological conditions, with particular focus on differentiation, proliferation, and cellular transformation processes. Special emphasis is placed on translating basic knowledge into the understanding of human pathophysiology and the development of innovative therapeutic approaches.
In detail, the training program focuses on:
• molecular and cellular mechanisms of pathophysiology, with particular emphasis on stem cells, differentiation, and cellular plasticity
• regulation of gene expression at transcriptional, post-transcriptional, and epigenetic levels (non-coding RNAs, epitranscriptomics, DNA methylation)
• control of protein synthesis and translational regulation in pathological processes, including tumorigenesis
• intercellular communication and interaction with the microenvironment, including exosomes and cell-cell crosstalk
• molecular mechanisms of tumorigenesis and cancer progression, with particular attention to the tumor microenvironment
• response to replicative stress and genomic instability as determinants of disease
• inflammatory and fibrotic processes in chronic and multifactorial diseases
• application of advanced experimental models, including organoids and complex cellular systems
• study of the molecular basis of human diseases, including the development of biomarkers, gene therapies, and personalized therapeutic strategies
MEDICAL GENETICS
The curriculum aims to provide advanced expertise in the study of the genetic and molecular basis of human diseases and their applications in diagnosis, prognosis, and therapy. Particular attention is given to translating genetic and molecular knowledge into clinical practice, including genetic counseling, diagnostic definition, prognosis, and the development of innovative therapeutic approaches.
In detail, the training program focuses on:
• molecular basis of Mendelian and multifactorial diseases, including rare, neurological, and developmental disorders
• identification and characterization of genetic variants through advanced sequencing technologies (Next Generation Sequencing) and omics approaches
• application of bioinformatics, biostatistics, and artificial intelligence tools for the analysis of complex biological data
• development of in vitro models and computational simulations to study altered gene and protein functions in Mendelian diseases, predict mutation impact, and design potential therapeutic interventions • functional analysis of genes and proteins and development of cellular and animal models for the study of genetic diseases
• study of epigenetic modifications in human diseases
• investigation of mechanisms of tumor transformation and progression and identification of molecular targets
• application of advanced cytogenetic and molecular technologies in diagnostics, particularly in oncohematology and prenatal settings
• identification of biomarkers for patient stratification and development of personalized medicine strategies • advanced in vitro and animal models for the study of variants associated with genetic diseases (neurological, cardiovascular, metabolic), both monogenic and multifactorial