Master's degree in Medical Bioinformatics

Medical Genetics (2019/2020)

Course code
4S004560
Credits
6
Coordinator
Cristina Bombieri

Teaching is organised as follows:
Unit Credits Academic sector Period Academic staff
FUNDAMENTALS OF MEDICAL GENETICS 3 MED/03-MEDICAL GENETICS II semestre Cristina Bombieri
Giovanni Malerba
HUMAN GENETICS 3 BIO/13-EXPERIMENTAL BIOLOGY II semestre Cristina Bombieri

Learning outcomes

The course aims at providig competences of human medical and molecular genetics and of advanced technologies and methods used to study and analyse genetic diseases, with emphasis given to the role played by genetic factors, defined at different resolution levels, from chromosome to single nucleotide, in Mendelian diseases, complex traits and cancer development and in the individual drug response, as well as at helping students develop thier ability to critically assess genetic information and apply it to theoretical, experimental and professional contexts. Upon succesful completion of the course, the students will gain broad knowledge and skills to - understand principles and mechanisms responsible for the occurrence of the different kind of genetic diseases and of the individual variation to pharmacological treatment and of precision medicine, - understanding of genetic data analysis in single individuals, families or populations and to interpret results - critically assess genetic information and apply it to theoretical, experimental and professional contexts, - choose the most appropriate tools and techniques for genetic analysis and critically evaluate the results, - communicate effectively with all the parties involved in the use or development of bioinformatics tools applied to molecular diagnosis and scientific research in the medical genetic field, - carry out autonomously further studies within the bioinformatics tools for genetic analysis.

Syllabus

The teaching consists of two units: Human Genetics and Fundamentals of Medical Genetics. The Human Genetics unit is propaedeutic to the Fundamentals of Medical Genetics one.

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MM: HUMAN GENETICS
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- Cytogenetics and medical cytogenetics. Uniparental Disomy.
- Bases of human genetics. Human genome organization.
- Fundamentals of classical genetics. Pedigree construction and analysis.
- Epigenetics and regulation of gene expression. X chromosome inactivation.
- Parent-of-origin effects, imprinting and genomic imprinting disorders.
- Molecular genetics in medicine. Mutations; Molecular pathology; Genotype-phenotype correlation. Somatic and Germinal Mosaicism.
- Diseases due to expansion of unstable repeat sequences (dynamic mutations).
- Non coding RNA and diseases.
- Genetic variation in individuals and populations.
- DNA polymorphisms and genetic markers. Identity by State and by descendant.
- Application of genetic polymorphism analysis (genetic profiling): paternity testing; bone marrow transplantation, diagnosis by linkage analysis.
- Genetic risks and risk estimation. Application of Bayes’ Theorem.

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MM: FUNDAMENTALS OF MEDICAL GENETICS
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- Mendelian disease gene and mutation identification. Genetic mankers and mapping. Linkage disequilibrium. Disease causing mutations
- Study of single-gene diseases: lessons fromThalassemia and Cystic Fibrosis.
- Modifier genes and complexity in single-gene disorders.
- Cancer genetics.
- The inheritance of multifactorial traits. Genetics of common disorders with complex inheritance.
- General aspects of the identification of genetic factors in complex diseases. Segregation analysis, mapping.
- Parametric and Non parametric Linkage. Linkage disequilibrium. Linkage and association analyses.
- Pharmacogenetics and precision medicine. Individual variation of drug response.
- Genome scan analysis.
- Genome sequencing and Genomic, Exomic, and Transcriptomic analysis.
- Bioinformatics and Genomics.

The teaching will be delivered through frontal sessions covering the whole exam program and aimed at achieving the learning outcomes: 12 lessons of Human Genetics followed by 12 lessons of Fundamentals of Medical Genetics. The course will be held in english.
To successfully address the course, rudimentary knowledge of biology and formal genetics fundamentals may be helpful. To this purpose the first lessons of human genetics unit will be dedicated to briefly recap this basic concepts. Additional didactic supports, can be provided by the teachers, to the students missing some or all the basic knowledge.
Besides the reference texts, oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, from both units, will be made available to students, in pdf format for download, through a dedicated homepage on the University e-Learning platform, troughout the course.
During the whole Academic Year, students may request personal reception to the teachers, by phone or e-mail.

Assessment methods and criteria

The exam consists in a single oral discussion on the topics listed in the syllabus of both the units, and can be taken in one of the four available sessions, scheduled as follow: 2 in the Summer Session at the end of the teaching, 1 in Autumn Session, 1 in Extraordinary Session in Winter.
The student will have to demonstrate to possess an advanced comprehension of the teaching contents allowing the critic analysis and reprocessing of the studied notions and to know how to apply the acquired knowledge to distinguish the various types of inheritance, interpret pedigree and genetic data, interpret genomic and sequencing data, recognise the different mutations and genetic factors involved in genetic disease development, determine and analyse genetic frequencies in a population, determine the recurrence genetic risk, solving proposed exercises and exposing their arguments accurately, with clarity and using the appropriate scientific language.
At the end of the interview, a single global evaluation, expressed as a score out of 30, will be made considering the student's overall preparation on both units. A final mark of 18/30 is needed to pass the exam. All students will be tested for the same skills: content of the exam will be the same for attending and non-attending students.

Reference books
Author Title Publisher Year ISBN Note
Strachan, Goodship, Chinnery Genetics and Genomics in Medicine (Edizione 1) Garland Science - Taylor and Francis Group 2014
Strachan T. and Read A. Human Molecular Genetics (Edizione 5) Garland Science (CRC press) 2018




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