HUMAN BIOLOGY AND MEDICAL GENETICS

ID : 
26069
Course type : 
Dottorato
Accademic year : 
2020/2021
Positions : 
5
Grant numbers : 
4
Number of scholarships financed by institutions : 
0
Number of scholarships financed by consortiums : 
0
Educational goals

SCOPE The main objective of the PhD in Human Biology and Medical Genetics is to train young independent, dynamic and creative scientists, who at the end of the course produced original scientific works published in international journals, and are ready to become independent researchers successfully joining Italian or foreign institutions. The research projects in which PhD students are involved cover a very broad area and include the most advanced topics of modern molecular and cellular biology as well as medical genetics. PhD students receive in-depth experimental training, including both basic research and its application in various areas of human physiology and pathology and counseling in medical genetics. In addition to experimental training, PhD students deepen and consolidate their theoretical knowledge, with courses offered within the scope of the PhD itself or of the BEMM school to which the PhD belongs and with the reading and discussion of scientific articles. PhD students are also trained in developing scientific communication ability at national and international level, by conducting seminars also in English and by offering in-depth courses in written and spoken scientific English. Finally, the students are strongly encouraged to participate in national/international courses, meeting and stages. These activities are as a rule financed by the PhD course. The PhD in Human Biology and Medical Genetics is divided into two curricula: 1) Human Biology This curriculum addresses the study of several problems of various molecular and cellular biology problems, with a targeted approach to the understanding of the fundamental mechanisms of the functioning, differentiation, proliferation and transformation of the eukaryotic cells, and their application in several 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 directed to the transfer of this knowledge in genetic counseling for a correct clinical framework, for prognosis and follow-up, and for any prevention and therapeutic programs. The PhD in Human Biology and Medical Genetics belongs to the School of Biology and Molecular Medicine (BEMM) 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. Proteomic strategies in the analysis of the tumor microenvironment for the discovery of new therapeutic and diagnostic targets. 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 effects of replicative stress on intercellular signaling and in differentiation as a pathogenetic mechanism of human genetic syndromes B) Curriculum Medical Genetics: 1. Characterization of the molecular basis of mendelian diseases. 2. Development and application of bioinformatics tools for genomic data analysis. 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).

Exam - written

Giorno: 8/9/2020 Ora: da definire Aula: da definire in seguito Indirizzo: da definire in seguito

Exam - Oral

Giorno: 9/9/2020 Ora: da definire Aula: da definire in seguito Indirizzo: da definire in seguito

Curriculum

a) BIOLOGIA UMANA
b) GENETICA MEDICA

Department
Dipartimento di medicina molecolare
Coordinator

LAURA STRONATI (laura.stronati@uniroma1.it)

School
Scuola di dottorato in Biologia e Medicina molecolare

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