Medical Genetics (2016/2017)

Course code
Cristina Bombieri
Teaching is organised as follows:
Unit Credits Academic sector Period Academic staff
Giovanni Malerba

Learning outcomes

The course aims to provide the basic concepts of human medical and molecular genetics and of advanced technologies and methods used to study and analyse genetic diseases.
At the end of the course, the students will have knowledge and tools necessary for the understanding of principles and mechanisms responsible for the transmission of normal and abnormal characters in humans and the mode of occurrence of hereditary biological variation, as well as of the different techniques and methods for genetic disease analyses.


The teaching consists of two modules: Human Genetics and Fundamental of Medical Genetics. The Human Genetics module is propaedeutic to the Fundamental of Medical Genetics one.

- Cytogenetics and medical cytogenetics.
- Parent-of-origin effects, imprinting and genomic imprinting disorders.
- Fundamentals of classical genetics. Pedigree construction and analysis.
- Molecular genetics in medicine. Mutations; Molecular pathology; Genotype-phenotype correlation.
- Diseases due to expansion of unstable repeat sequences (dynamic mutations).
- Genetic variation in individuals and populations.
- Bases of human genetics. Human genome organization, DNA polymorphisms and genetic markers. Linkage Disequilibrium.
- Application of genetic polymorphism analysis (genetic profiling): paternity testing; bone marrow transplantation, diagnosis by linkage analysis.

- Mendelian disease gene and mutation identification.
- Medical genetics. Examples of single-gene diseases: Thalassemias; Cystic Fibrosis.
- Modifier genes and complexity in single-gene disorders.
- The inheritance of multifactorial traits. Genetics of common disorders with complex inheritance.
- Pharmacogenetics and precision medicine. Individual variation of drug response.
- Cancer genetics.
- Genetic risks and risk estimation.
- 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: 12 lessons of Human Genetics followed by 12 lessons of Fundamental 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 module will be dedicated to briefly recap this basic concepts.
Oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, from both modules, will be made available to students, in pdf format for download, through a dedicated homepage on the University e-learning platform, troughout the course. Additional didactic supports, can be provided to the students missing some or all the basic knowledge.
During the whole Academic Year, students may request personal reception to the teachers, by e mail.

Assessment methods and criteria

The exam consists in a single oral discussion on the topics listed in the syllabus of both the modules, 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 interpret pedigree and genetic data and to determine the recurrence genetic risk, solving proposed eercises, exposing their arguments accurately, with clarity and using the appropriate scientific language.
At the end of the interview, a global evaluation will be made considering the student's overall preparation. The final mark will be a score out of 30,
Content of the exams will be the same for attending and non-attending students. All students will be tested for the same skills.

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
Bradley Schaefer G., Thompson J.N. jr. Medical Genetics – An integrated approach (Edizione 1) McGraw-Hill 2014
Nussbaum, McInnes, Willard Thompson & Thompson Genetics in Medicine (Edizione 8) Elsevier 2016