Human Biology and Medical Genetics

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PROCEDURE DI AMMISSIONE AL 34° CICLO I bandi di concorso per l’ammissione al Dottorato in Biologia Umana e Genetica Medica vengono pubblicati annualmente in giugno/luglio sul sito internet della Sapienza, al seguente link: Nello stesso link sono reperibili tutte le informazioni amministrative relative al concorso, e verranno pubblicate le graduatorie definitive. L’esame di ammissione consiste nello svolgimento di un tema su argomenti generali riguardanti le tematiche del dottorato, seguito da un colloquio nel quale il candidato descrive la propria attività scientifica precedente e dà una prova di conoscenza dell’inglese scientifico. Poiché i temi di esame sono diversi per i due curricula, al momento della prova lo studente deve dichiarare per quale dei curricula intende concorrere. La valutazione sarà effettuata, e la graduatoria stabilita, in base ai risultati delle prove di esame. Potranno essere attribuiti fino a 100 punti così ripartiti: Prova scritta: fino a 50 punti. Il punteggio minimo per essere ammessi alla successiva prova orale è 30 punti. Prova orale: fino a 45 punti; Prova di lingua: fino a 5 punti Per entrare nella graduatoria degli idonei il candidato dovrà conseguire un punteggio cumulativo fra scritto e prove orali di almeno 70/100 punti. Il calendario delle prove di ammissione ai corsi del 34° ciclo sarà il seguente: Prova scritta: 05/09/2018 ora: 10:00 aula: Aula Conferenze - Istituto CSS-Mendel indirizzo: Viale Regina Margherita 261 Roma Prova orale:06/09/2018 ora: 10.00 Stesso luogo della prova scritta.

Educational goals

SCOPE The main objective of the PhD in Human Biology and Medical Genetics is to train the students to successfully pursue up-to-date research topics using state-of-the art techniques in the fields of molecular and cellular biology, molecular genetics, cytogenetics and immunogenetics. Altogether, the projects offered cover some of the most advanced fields of molecular and cellular biology and of molecular and clinical genetics; many are focused on medically oriented topics, such as cancer, aging and tissue renewal. Besides experimental work, the PhD course also includes a through theoretical preparation. The PhD student works within a specific research group, carrying out an autonomous project under the supervision and tuition of an established scientist. This is a full-time job, in which the student is expected to be entirely responsible for the planning and carrying out the necessary experiments, collaborating actively when required with the other members of the research group. The state of advancement of the work is regularly discussed and evaluated with the tutor. At the end of every year, each student gives a public progress report presenting his/her work to an audience including the assembled board of professors and any other interested scientist. 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 basic molecular and cellular biology, with a targeted approach to the understanding of the fundamental mechanisms of operation, differentiation, proliferation and transformation of eukaryotic cells, 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 the latest technologies in cytogenetics, molecular genetics and immunogenetics. Particular interest is given to the transfer of such knowledge in genetic counseling clinic for a correct clinical diagnosis and possible prevention programs. The PhD in Human Biology and Medical Genetics pertains to the School of Biology and Molecular Medicine (BEMM) RESEARCH THEMES A) Curriculum of Human Biology: 1. Study of the molecular, cellular and tissutal bases of the pathophysiology of liver stem cell and hepatocyte differentiation. 2. Role of oncogenes and tumor suppressor genes in the control of proliferation, survival and terminal differentiation of the myogenic system. 3. Epigenetic regulation of genes involved in cell cycle control during the establishment, maintenance and release from dormancy. 4. In vitro differentiation of normal and leukemic hematopoietic populations stimulated by liver transgenic lines. 5. The Archaea as model systems for the study of the evolution of the apparatus of protein synthesis and translational regulation of gene expression. 6. The translational regulation in tumorigenesis: oncogenic role of initiation factors of protein synthesis 7. RNA mediated gene silencing. 8. Regulation of the activity of the enzyme poly (ADP-ribose) polymerase 1 (PARP-1) in response to DNA damage. 9. Epigenetics and aging 10. Poly ADP-ribosylation as epigenetic marker of DNA regions which are to remain unmethylated in the genome. 11. "Housekeeping" mechanisms by which inhibitors of poly (ADP-ribosylation) act as anticancer agents. 12. Poly (ADP-ribosylation) and imprinting in primordial germ cells (PGCs). 13. Epigenetics of certain neurodegenerative diseases. 14. Molecular genetics and gene therapy of cystic fibrosis. 15. The axis IGF / IGF-binding proteins in tumor progression. B) Curriculum Medical Genetics: 1. Molecular characterization of genetic diseases with special reference to congenital heart disease, altered iron metabolism, defects in sexual development. 2.Application of new generation sequencing techniques for the identification genetic defects underlying Mendelian diseases. 3. Onco-hematologic genetics 4. Identification of genes responsible for susceptibility to familial cancers (eg, melanoma, breast cancer, colon cancer) 5. Pathologic defects of the connective tissue 6. Association HLA-disease 7. High-resolution molecular characterization of the HLA system in candidates for transplantation. 8. Multi-factorial diseases 9. Forensic genetics 10. New molecular approaches in the development of platforms for neonatal screening

Exam - written

Giorno: 5/9/2018 Ora: 10:00 Aula: Aula Conferenze - Istituto CSS-Mendel Indirizzo: Viale Regina Margherita 261 , Roma

Exam - Oral

Giorno: 6/9/2018 Ora: 10:00 Aula: Aula Conferenze - Istituto CSS-Mendel Indirizzo: Viale Regina Margherita 261 , Roma


Membri effettivi

Prof. Antonio Pizzuti - Sapienza Università di Roma
Prof. Salvatore Ulisse - Sapienza Università di Roma
Prof. Valerio Fulci - Sapienza Università di Roma

Membri supplenti

Prof. Alberto Spalice - Sapienza Università di Roma
Prof. Carmine Mancone - Sapienza Università di Roma
Prof. Marco Lucarelli - Sapienza Università di Roma



Biotecnologie Cellulari ed Ematologia
Phone contacts

+39 +39064940463


Antonio Pizzuti (


Paola Londei

Biologia e Medicina Molecolare

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