SCOPE
The PhD in Human Biology and Medical Genetics aims to provide a high-profile preparation in integrated and highly advanced topics of cellular, molecular biology and medical genetics. PhD students receive in-depth experimental training, including both basic research and its applicative aspects in various fields of cellular physiology and pathology and medical genetics, also with reference to the diagnostic definition of complex clinical cases.
The primary objective is to train young researchers by inserting them in innovative research projects of high scientific depth, encouraging them towards a rigorous, independent, critical and creative attitude.
A strong point of the training of doctoral students is the integration of wet-lab and computational biology experiences, for the training of researchers capable of consciously managing both the design/implementation of complex experiments and the subsequent analyzes with computational tools, in the field of research and diagnostics in medical genetics. This approach places emphasis on careful programming of the computational and biostatistical tools to be used already at the time of designing laboratory experiments.
At the same time, students can deepen their theoretical knowledge through an adequate consultation of the scientific literature and critically discussing the results of their research activity in weekly seminars and annual presentations, held in English in order to solicit their skills of scientific communication also in the international context. In addition to the seminars organized under this PhD course, multiple interdisciplinary seminars and theoretical and practical courses are offered to students within the BeMM (Biology and Molecular Medicine) PhD school which brings together several doctoral courses including the PhD in Human Biology and Medical Genetics, allowing to implement knowledge in fundamental aspects of biology and genetics and to encourage the exchange of information and comparison with different scientific realities. Students are also strongly encouraged to participate in national and international congresses or courses, having an individual budget made available by the PhD program. The primary objective is also to provide the skills to finalize one's work to the production of scientific publications in highly prestigious journals.
Another objective of this PhD course is the internationalization promoted by encouraging people to attend laboratories abroad for continuous periods. Furthermore, during the course, foreign teachers are invited to carry out lectures, seminars and courses.
EQUIPMENT AVAILABLE TO PhD STUDENTS
Each PhD student has:
- an office workstation, equipped with a PC;
-cellular and molecular biology laboratories equipped with modern equipment that allow carrying out both basic and translational research relating to the doctoral topics and human genetics and genomics laboratories engaged in the management and study of genetic diseases through integrated molecular diagnostic and experimental research;
- hardware IT equipment for scientific computing and data storage (workstations, desktop computers, 1 HPC cluster, data storage servers, GPU graphics cards);
- specialized software for statistical analysis, big data, Next Generation Sequencing data, sequence and fragment analysis, machine learning, virtualization, molecular dynamics simulations and workflow management systems;
- scientific equipment for mass spectrometric analysis (managed at the National Institute for Infectious Diseases IRCCS “Lazzaro Spallanzani”), laboratory animal facility (at the Department of Molecular Medicine to which the doctorate belongs);
- specialized bibliographic material thanks to subscriptions with editorial packages provided by the University and the individual Departments to which the tutors belong or even with the centers affiliated with the doctorate (ISS, CSS Mendel, OPBG).
CURRICULA
The PhD in Human Biology and Medical Genetics is divided into two curricula:
1) Human Biology
This curriculum addresses the study of different themes of molecular and cellular biology, with an approach aimed at understanding the fundamental mechanisms of cell functioning, differentiation, proliferation and transformation and their application in various fields of human physiology and pathology.
2) Medical Genetics
This curriculum addresses the study of the molecular defects underlying genetic diseases through the application of Next Generation Sequencing and cytogenomics sequencing technologies, and functional studies. Particular interest is aimed at the transfer of this knowledge in genetic counseling for a correct clinical setting, for prognosis and follow-up, and for any prevention and therapeutic programs.
RESEARCH THEMES
A) Human Biology Curriculum
1. Study of the molecular, cellular and tissue bases of the physiopathology of the hepatic stem cell and hepatocyte differentiation.
2. Transcriptional control mediated by non-coding RNAs in hepatocyte transformation and epithelial-mesenchymal transition (EMT).
3. Molecular bases of intercellular communication mediated by exosomes in physiology and pathology.
4. Role of epitranscriptomics in epithelial-mesenchymal transition and tumorigenesis.
5. Translational regulation in tumorigenesis: oncogenic role of protein synthesis initiation factors.
6. Molecular biology of non-coding RNAs in human cells.
7. Role of the tumor microenvironment in influencing the growth and invasiveness of cholangiocarcinoma cells.
8. Identification and characterization of molecular mechanisms involved in the response to replicative stress and their involvement in pathogenetic mechanisms of human genetic diseases and as biomarkers of therapeutic efficacy or targets for molecular therapies in tumors
9. Organoids of normal or tumoral human thyrocytes as an experimental model for the study of thyroid physiopathology and tumorigenesis.
10. Study of the molecular mechanisms that regulate inflammatory and fibrotic processes in human diseases (chronic inflammatory bowel diseases, metabolic syndrome, eosinophilic enteropathies, neuroinflammation, cancer).
11. Characterization of the molecular mechanisms involved in the etiopathogenesis of cholangiocarcinoma.
12. Molecular genetics, personalized therapy and gene therapy of Cystic Fibrosis.
13. Epigenetics and molecular genetics of human diseases (Alzheimer's disease, alcohol addiction, low HDL syndrome).
14. DNA methylation and demethylation in the modulation of gene expression and cell differentiation in neuromuscular model systems.
15. Development of advanced strategies for multiparametric platelet phenotyping and platelet-immune system crosstalk in patients with cardiometabolic diseases.
B) Medical Genetics Curriculum:
1. Study of the molecular bases of Mendelian diseases through advanced sequencing techniques and omics analysis, with the aim of identifying pathogenic variants and understanding the mechanisms underlying the pathologies.
2. Development of in vitro models and computational simulations to analyze altered gene and protein functions in Mendelian diseases, predict the impact of mutations and design potential therapeutic interventions.
3. Development of artificial intelligence-based tools for the analysis of complex omics data to implement the diagnosis and prognosis of human diseases and develop personalized therapeutic strategies.
4. Oncological genetics: from the mechanisms responsible for neoplastic transformation and progression to tumor susceptibility.
5. Application of cytogenetic and molecular technologies in the characterization of oncohematological diseases and in the definition of variants that constitute a molecular target.
6. Pharmacogenetics / pharmacogenomics / target therapy.
7. Genetics of cardiovascular diseases and sudden deaths.
8. Study of epigenetic modifications in rare diseases.
9. Immunogenetics of transplants.
10. Genetic bases of fetal malformations.
11. Omics applications in prenatal diagnosis.
12. Genetics and epigenetics of infertility.
13. Animal models in the study of variants associated with genetic diseases.
14. Mechanisms underlying diseases due to defects in sexual development.
15. Clinical-molecular study of neurological diseases, both monogenic and multifactorial, including movement disorders, neurodegenerative diseases and epilepsies.
16. Identification of new biomarkers for stratification and personalized therapy of patients affected by rare and multifactorial genetic disease