Medical genetics and pharmacogenomics (2020/2021)

Course code
Name of lecturers
Giovanni Malerba, Alberto Turco
Giovanni Malerba
Number of ECTS credits allocated
Academic sector
Language of instruction
II semestre dal Mar 1, 2021 al Jun 11, 2021.

Lesson timetable

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Learning outcomes

The course provides the principles of medical genetics and pharmacogenomics. It aims to show when and how the genetic factor, defined at different resolution levels (from chromosomes to single nucleotide) plays a role in the variability of Mendelian and complex diseases, and of the variability of drug-response. The course aims to provide students with the tools to be able to evaluate critically and independently the results of scientific research in the field of medical genetics and pharmacogenomics.


Human chomosomes, standard karyotype and numerical and structural chromosomal abnormalities. Chromosomal polymorphisms and CNV.
- Chromosomic syndromes and Genome disorders. Uniparental disomy . Uniparental diploidy
- Genetic counselling, genetic tests, prenatal diagnosis. - Parent-of-origin effects, imprinting and genomic imprinting disorders.
Diseases due to expansion of unstable repeat sequences (dynamic mutations). Unstable repeat expansion, premutation and full mutation, Sherman's paradox, anticipation.
-- Hereditary. Mendelian inheritance and atypical inheritance patterns: Mitocondrial inheritance
- Bases of human genetics. Human genome organization, gene order on human chromosomes. Structure of eukaryotic genes. Repetitive DNA. DNA polymorphisms: RFLP, SNP, VNTR, minisatellites, microsatellites. Genetic markers, physical and genetic maps. Linkage Disequilibrium.
- Pedigree construction and analysis.
- Gene and chromosomal mutations, mutation nomenclature. Mutagenesis and DNA repair. Molecular pathology of the gene: biological relevance and effect on the phenotype of mutations, methods for mutation classification as disease-causing. Gain and loss of function mutations, dominance and recessiveness. Genotype-phenotype correlation.
- Genetic variation in individuals and populations. Mutation and polymorphism. The Hardy-Weinberg law, allele and genotype frequency calculation. Inbreedeng and relatedness.
- Mendelian disease gene and mutation identification. Positional and functional cloning. Linkage analysis, human gene mapping, sequencing. Identification of disease causing mutations. Direct and indirect mutation analysis.
- Genetic testing. Diagnostic, presymptomatic, susceptibility, heterozygote identification, population genetic screening, neonatal screening.
- Modifier genes and complexity in single-gene disorders.
- The inheritance of multifactorial traits. Genetics of common disorders with complex inheritance, genetic and environmental factors, qualitative and quantitative traits, genetic predisposition to common diseases. General aspects od the identification of genetic factors in complex diseases. Segregation analysis: Mapping of complex traits, Familial and twin studies.
-Parametric and Non parametric Linkage. Linkage disequilibrium. Linkage and association analyses. Candidate gene studies, genome wide association studies (GWAS).
- Pharmacogenetics and precision medicine. Individual variation of drug response. Genes and polymorphisms of drug metabolism and mechanism of drug action. Molecular diagnostics of pharmacogenetic traits.
- Cancer genetics.
- Genome scan. Study design, quality control of data, imputation, risk assessment, linkage and association.
- Genome sequencing and Genomic, Exomic, and Transcriptomic analysis. Gene counting. Isoforms. Bioinformatics and Genomics.

Reference books
Author Title Publisher Year ISBN Note
Strachan T. and Read A. Human Molecular Genetics (Edizione 5) Garland Science (CRC press) 2018
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

Assessment methods and criteria

The task of the exam consists in verifying the comprehension of course contents and the ability to properly describe their arguments with appropriate scientific language.
Examination methods are the same for students who attended and for those who did not attend the course.
The exam consists of an oral test based on all the course contents
The exam is passed if the evaluation is greater or equal to 18/30.