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Genetic causes of human infertility - Prof. Alessia Colosimo - a.y. 2023/2024
Reproductive Biotechnologies - 2nd year
ATTENZIONE: i contenuti di questo corso sono relativi all'anno accademico 2023/2024
Topic outline
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1992: Master's Science Degree in Biology, University of Florence, Italy
1998-2000: PhD fellow and Post-Doc, Cardiovascular Research Institute, University of California UCSF, San Francisco, USA. Tutor: Professor Dieter C Gruenert.
1999: PhD in Medical Genetics, University of Rome, Tor Vergata. Research Topic: Novel approaches of gene therapy for Cystic Fibrosis.
2000: Research Assistant Professor in Applied Biology (E06X) University of Chieti-Pescara, Italy.
2004 at present: Associate Professor in Medical Genetics (06/A1) (MED/03), University of Teramo, Italy.
2002-2004: Member of the Academic Board of the Doctorate Course in "Robotica ed innovazioni informatiche applicate alle scienze chirurgiche", University of "Tor Vergata", Rome, Italy.
2004-2014: Member of the Academic Board of the Doctorate Course in "Cellular and Molecular Biotechnology", University of Teramo, Italy.
November 2015-at present: Programme Director of the Second Level Degree Course in Reproductive Biotechnologies, University of Teramo
RESEARCH ACTIVITY:
The research carried out by Prof. Alessia Colosimo focuses on Medical Genetics and Applied Biology. The main research areas of interest are:- Applied biotechnology for characterization of monogenic mendelian diseases - Applied biotechnology for the identification of causative mutations of mendelian disorders, - Non viral gene therapy for mendelian diseases, - Isolation, characterization and use of hematopoietic stem cells on biodegradabile scaffolds, - Molecular epigenetic studies on imprinted genes in female gametes, - Regenerative properties of amniotic stem cells on experimental models
PUBLICATIONS
Professor Alessia Colosimo has published more than 70 scientific articles on international scientific journals with impact factor.
INFO ABOUT THE COURSE
OBJECTIVES OF THE COURSE- Knowledge and understanding: This module aims to provide, through theoretical lessons in English, a complete and updated knowledge of the molecular and genetic mechanisms leading to sexual development in female and male human individuals. The biological and molecular knowledge of these mechanisms is necessary to understand the human sexual development diseases (SDS). In addition the course will focus on the genetic and chromosomal causes of human infertility, both in males and females. The course is also aimed at the study of epigenetic disease in humans, and to the analysis of preimplantation diagnosis and screening methods of couples undergoing to ART.
- Applying knowledge and understanding: At the end of the course students will be able to apply the theoretical knowledge and the main laboratory methods related to the study of human infertility, by means of a written and/or an oral examination.
- Making judgements: During the theoretical and practical lessons will be evaluated the students ability to develop experimental protocols, to apply them properly, to collect and analyze the data, through independent (self-evaluation test) and group activities (laboratory exercises).
- Communication: The communication skills of the student will be evaluated as follows:
- Ongoing, throughout the course. The large amount of guided practice activities and the favorable ratio teachers/students will allow a continuous dialogue between students and teacher.
- At the final examination. Students will be evaluated for their ability to communicate the acquired knowledge using the appropriate technical-scientific language. - Learning skills: The organization of the course in the four-weeks modules allows students to check their knowledge before moving on to the next module. In this way teachers are able to modulate the deepening of concepts given to the needs of the individual and class.The tight integration between lectures and practical activities allows teachers of the course to individually follow students
PREREQUISITE AND PREPARATORY- Prerequisite: None
- Preparatory: None
DUBLIN DESCRIPTORS FOR UNIT
UNIT 1: GENETIC CAUSES OF HUMAN INFERTILITY- Knowledge and understanding: The unit aims to describe the molecular and genetic mechanisms leading to: 1) normal sexual development in humans and related disorders; 2) male and female infertility; 3) imprinting disorders. In addition, the unit will provide theoretical knowledge on the preimplantation genetic diagnosis and screening protocols used in couples undergoing to medically asssisted procreation (PMA).
- Applying knowledge and understanding: Applying knowledge and understanding of molecular mechanisms of the above described topics will be used and tested during the laboratory activities.
- Making judgements: During the lessons in classroom and laboratories activities students should demonstrate to have acquired a critical approach and an attitude to scientific research, as well as an indipendent ability to solve analytical problems.
- Communication: Students will be evaluated for their ability to communicate to others the acquired knowledge (both theoretical and practical) using the appropriate technical-scientific language.
- Learning skills: Students should acquire a critical approach to the research field and the skills to further explore arguments of pertinence by themselves.
UNIT 2: GENETIC TESTING OF HUMAN INFERTILITY- Knowledge and understanding: The unit aims to describe the genetic testing methods to analyze the different form of human male and female infertility. In addition will be discussed the genetic counseling protocol for couples undergoing to medically assisted procreation (PMA), understanding the benefit, limits and potential improvements of the genetic testing. The unit will also provide theoretical knowledge on the new fields of research of epigenetics and nutrigenetics in human reproduction.
- Applying knowledge and understanding: Applying knowledge and understanding of molecular test for infertile couples will be used in the laboratory activities that will be carried out during Unit 3.
- Making judgements: During the classroom lessons students should demonstrate to have acquired a critical approach and an attitude to scientific research, as well as an indipendent ability to solve applicative problems.
- Communication: Students will be evaluated for their ability to communicate to others the acquired knowledge using the appropriate technical-scientific language
- Learning skills: Students should acquire a critical approach to the research field and the skills to further explore arguments of pertinence by themselves
UNIT 3: LABORATORY ACTIVITIES (University of Chieti-Pescara)- Knowledge and understanding: The unit will provide the knowledge on the use of laboratory protocols and molecular methods in the study of human infertility, both in males and female patients. In particular it will provide notions on: 1) genetic testing of sexual develpoment disorders (genetic analysis of the SRY, AR and SRD5A2 genes); 2) genetic testing in infertile couples and in couples undergoing to PMA (karyotype, virtual karyotype, Yq microdeletions, analysis of the CFTR gene by QF-PCR and NGS); 3) epigenetics and nutrigenetics studies in human reproduction (genes involved in food metabolism; methylation analysis of spermatic DNA).
- Applying knowledge and understanding: This students ability will be proved by solving operational questions that require skills in handling laboratory equipment and in methods/protocols learned
- Making judgements: During the laboratories activities students should demonstrate to have acquired a critical approach and an indipendent ability to solve technical/practical problems.
- Communication: Students will be evaluated for their ability to communicate the acquired notions, using the appropriate scientific language, by answering to specific technical questions formulated during laboratories activities
- Learning skills: Students should acquire a critical approach to the applicative field of genetic research and the technical skills to further explore arguments of pertinence
WEEKLY LESSONS
COURSE BOOKS
Revelli, Tur-Kapsa et al Biotechnology of human reproduction, Parthenon publishingGandini & Lenzi Biotecnologie della riproduzione umana, Carocci FaberINTERMEDIATE TESTS
INTERMEDIATE TEST 1- Reference unit: 1
- Date:
- Type of test: multiple choice test
INTERMEDIATE TEST 2- Reference unit: 2
- Date:
- Type of test: multiple choice test
EVALUATION
Final testing will be performed by written/oral examinations -
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