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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) Curriculum of Human Biology:
1. Study of the molecular, cellular and tissue bases of the physiopathology of the hepatic stem cell and of hepatocyte differentiation.
2. Transcriptional control mediated by non-coding RNAs in hepatocyte transformation and epithelial-mesenchymal transition (EMT).
3. Molecular basis of exosome-mediated intercellular communication in physiology and pathology.
4. Translational regulation in tumorigenesis: oncogenic role of the initiating factors of protein synthesis.
5. Molecular biology of non-coding RNAs in human cells.
6. Study of the molecular mechanisms that regulate the autophagic process in physiological and pathological conditions.
7. Molecular and cellular basis of the tumor microenvironment in the metastasis of cancer cells.
8. Organoids of normal or tumor human thyrocytes as an experimental model for the study of pathophysiology and thyroid tumorigenesis.
9. Study of the molecular mechanisms that regulate chronic inflammatory processes in human diseases (inflammatory bowel diseases, metabolic syndrome, eosinophilic enteropathy, neuroinflammation).
10. Molecular genetics, personalized therapy and gene therapy of Cystic Fibrosis.
11. Epigenetics and molecular genetics of human diseases (Alzheimer's disease, alcohol dependence, low HDL syndrome).
12. DNA methylation and demethylation in the modulation of gene expression and cell differentiation in neuromuscular model systems.
13. Study of the crosstalk between platelets and leukocytes in both sterile and infectious thromboinflammatory diseases and of the molecular mechanisms that underlie sex differences in the onset and progression of these diseases.
B) Curriculum Medical Genetics:
1. Characterization of the molecular basis of Mendelian diseases through functional in vitro methods and computational approaches, including artificial intelligence and molecular dynamics simulation.
2. Development and application of bioinformatic tools for the analysis of genomic (both nuclear and mitochondrial genome), epigenomic (chromatin accessibility, epigenetic modifications, ncRNAs), and transcriptome data obtained through Next Generation Sequencing experiments.
3. Study of non-coding RNA-mediated mechanisms in physiological and pathological conditions.
4. Study of the role of genomic variants in pathogenetic mechanisms.
5. Oncological and oncohematological genetics.
6. Pharmacogenetics / pharmacogenomics.
7. Molecular and epidemiological genetics of type 2 diabetes and cardiovascular complications.
8. Translational research in rare diseases: study of the metabolome, genetic determinants, identification of biomarkers and development of new "cell-based" therapeutic approaches.
9. The human hematopoietic / stromal stem compartment and tissue regeneration after transplantation.
10. Extra cellular vesicles and changes in fetal programming in the great obstetric syndromes (PIH, IUGR, diabetes).
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