Università degli Studi di Urbino Carlo Bo / Portale Web di Ateneo


A.Y. Credits
2020/2021 8
Lecturer Email Office hours for students
Stefano Gambardella
Teaching in foreign languages
Course partially taught in a foreign language English
This course is taught partially in Italian and partially in a foreign language. Study materials can be provided in the foreign language and the final exam can be taken in the foreign language.

Assigned to the Degree Course

Biotechnology (L-2)
Date Time Classroom / Location
Date Time Classroom / Location

Learning Objectives

The course is focused on the acquisition of the fundamental principles of medical genetics, genetic diseases, and personalized genomic medicine.

The course will provide students with the knowledge of the mechanisms of genetics in medicine. The course aims to share knowledge on genetic diseases, their mechanisms and therapeutic perspectives. Particular attention is paid to the principles of personalized genomic medicine and to the applicative possibilities of pharmacogenomics in clinical practice.


-> First part

The human genome, genes, and chromosomes

Chromatin, heterochromatin, dose compensation, chromosomes in mitosis and meiosis. Genes structure and the human genome.

Gametogenesis and zygote

Zygote generation, chromosomal determination of sex


Human karyotype, mitotic chromosomes,  banding techniques, meiotic chromosomes

Chromosomal disorders

Mutations, number and structure abnormalities, sex chromosomes, X chromosome inactivation, X female abnormalities, sex chromosome abnormalities in males

Study of family trees

Monogenic disorders, autosomal dominant inheritance, recessive and sex-related

Exceptions to Mendelian inheritance

Issues related to the interpretation of family trees. Variable expressivity and incomplete penetrance (Ex: Holoprosencephaly). Genetic heterogeneity (Ex: deafness). Late-onset diseases and anticipation (Ex: Huntington's disease). Unbalanced X chromosome inactivation and X / autosomal translocations. Germinal and somatic mosaicism. Mitochondrial inheritance (examples of mitochondrial diseases). Imprinting.

Molecular epidemiology and susceptibility to multifactorial diseases

Polygenic diseases: Quantitative and semi-quantitative characters. Evaluation of the genetic component in complex genetic diseases. Strategies for the identification of susceptibility genes.

Developmental genetics

Mono-dizygotic twins, control of sexual development, genetic defects of embryonic development: Homeobox and Hedgehog genes, Defects in limb development.

Disorders of sexual development

Determination of gonadal sex and differentiation of phenotypic sex

Genetic testing and genetic counseling

Genetic counseling and diagnostic tests with different utilities and applications: prenatal, postnatal, screening, presymptomatic and susceptibility. The genetic report, diagnostic pathways 

Prenatal diagnosis

Chorionic villus sampling. Amniocentesis. Cordocentesis. Cytogenetic analysis, Molecular analysis. Preimplantation, genetic diagnosis. Future developments: non-invasive prenatal diagnosis

Diagnostic techniques

PCR, Real-Time PCR, Sequencing

-> Second part

Genetically determined Human diseases. The following will be treated: Biological and genetic bases of diseases. Placement within diagnostic pathways. Gene therapy. Practical and interpretative exercises, risk calculation, drafting of a genetic report.

Introduction to genomics and post-genomics.

IT services and tools in genetic diseases. Database of pathologies and variants. Interpretation of variants based on computer databases and scientific literature. Identification of disease genes: Functional cloning and positional cloning, the candidate-by-position gene approach. The Human Genome Project and the use of the human genome sequence for the identification of disease genes. New generation sequencing and its clinical applications. International databases

Chromosomal syndromes and genomic disorders

Main chromosomal aberration syndromes: Trisomy 13, trisomy 18, trisomy 21. Cry-du-chat syndrome. Wolf syndrome. Turner and Klinefelter syndrome. CGH arrays and cryptic chromosomal rearrangements. Diagnostic approach to intellectual disability. Abnormalities of sex chromosomes

Diseases caused by genomic imprinting

Angelman syndrome. Prader-Willi syndrome. Genomic imprinting and medically assisted procreation

The most common genetic disorders

Cystic fibrosis and pathologies related to the CFTR gene, Thalassemia and Hemoglobinopathies, Hemochromatosis,

Diseases caused by dynamic mutations

Fragile X chromosome syndrome. Myotonic dystrophy. Huntington's disease. Kennedy's disease. Friedreich's ataxia. Autosomal dominant spinocerebellar ataxia.

Neurological and neurodegenerative disorders and complex phenotypes

Movement disorders: Spastic paraplegies, Parkinsonisms, Ataxias, Dystonia. Genetically-determined dementias: Alzheimer's, frontotemporal dementias. Neuromuscular diseases: Spinal muscular atrophy, Amyotrophic lateral sclerosis (ALS), Muscular dystrophy, Hereditary peripheral neuropathies

Cardiological diseases

Hereditary primary cardiomyopathies. Hypertrophic cardiomyopathy. Left ventricular non-compaction. Dilated cardiomyopathy. Arrhythmogenic cardiopathies

Eye diseases

Retinitis Pigmentosa, Usher Syndrome, Stargar's Disease, Retinal Macular Degeneration

Rare diseases

Orphan drugs and the complexity of the genetic component. Applications of the clinical exome.

Functional assays

Bioinformatics, Minigene assay, Generation IPS cells

Gene therapy

Methods and clinical trials concerning the pathologies addressed. Outline of Gene Transfer, Targeting of transgenes, RNA interference, CRISPR and gene editing.

Main applications of gene therapy in hereditary diseases (Cystic fibrosis; Hereditary coagulopathies). Specific aspects of tumor gene therapy

Cancer Genetics

Hereditary tumor syndromes, somatic mutations, oncogenes and tumor suppressors

Forensic Genetics

The study of inter-individual variability, Molecular typing, Interpretation of profiles,  biostatistic calculation


Involvement of the microbiome in the pathophysiology of human disease

-> Third part


Pharmacogenetics, pharmacogenomics. Pharmaco-epigenetics. Sequencing of the human genome and interindividual variability.

Interindividual variability in efficacy and tolerability in response to drug therapy

Enzymes responsible for drug metabolism, genes coding for the drug's therapeutic target, genes that influence drug response: pharmacokinetics (proteins involved in the bioavailability of the drug), pharmacodynamics (genes that code for the drug's therapeutic target)

Pharmacogenetics in clinical practice

Molecular tests, development of new drugs. Cytochrome genes, KRAS / NRAS, BRCA1 / 2

Pharmacogenomics and study technologies

Genome-wide analysis

Precision medicine

Identification of molecular targets and biomarkers. Sequencing of tumor genomes

Liquid biopsy

Use of liquid biopsy in clinical practice. Diagnostic, prognostic and predictive value in cancer pathologies

Companion diagnostic

The drugs that need a genetic test for their administration

Learning Achievements (Dublin Descriptors)

D1 - Knowledge and ability to understand. The student will show mastery in basic knowledge of molecular genetics, cytogenetics, familial pedigrees, patterns of disease transmission, pharmacogenomics and personalized medicine.

D2 - Ability to apply knowledge and understanding. The student will demonstrate understanding of concepts and theories provided by the course; students will provide examples of genetic diseases (biological, clinical, hereditary, and analytical skills); they will be able to analyze familial pedigrees, identifying patterns of transmission, recurrence risks, available tests.

D3 - Autonomy of judgment.The student will show the ability to use knowledge and concepts that allow to apply logic of the discipline. In particular, students have to be able to identify appropriate personalized medicine strategies in order to administer pharmacogenetic tests; they will simulate the design of diagnostic pathways; they will be able to propose possible solutions to problematic cases.

D4 - Communication skills. The student will show the ability to communicate the knowledge acquired to their colleagues and superiors using appropriate terminology.

D5 - Learning skills. The student will show possession of the learning ability useful for the continuous updating of knowledge in this discipline.

Teaching Material

The teaching material prepared by the lecturer in addition to recommended textbooks (such as for instance slides, lecture notes, exercises, bibliography) and communications from the lecturer specific to the course can be found inside the Moodle platform › blended.uniurb.it

Supporting Activities

Exercises in e-learning mode

Teaching, Attendance, Course Books and Assessment


The course includes frontal lessons, exercises, and research programmes

Course books

Tom Strachan, Judith Goodship, Patrick Chinnery. "Genetica e Genomica". Zanichelli editore

Tom Strachan, Andrew Read. "Genetica molecolare Umana" Zanichelli editore

James Swarbrick. "Pharmacogenomics"

Dale Halsey Lea, Dennis J. Cheek, Daniel Brazeau, Gayle Brazeau. "Mastering Pharmacogenomics: A Nurse’s Handbook for Success"

Nadine Cohen. "Pharmacogenomics and Personalized Medicine"


Oral exam. To attend the final exam, students have to complete all the planned exercises in e-learning mode

Disabilità e DSA

Le studentesse e gli studenti che hanno registrato la certificazione di disabilità o la certificazione di DSA presso l'Ufficio Inclusione e diritto allo studio, possono chiedere di utilizzare le mappe concettuali (per parole chiave) durante la prova di esame.

A tal fine, è necessario inviare le mappe, due settimane prima dell’appello di esame, alla o al docente del corso, che ne verificherà la coerenza con le indicazioni delle linee guida di ateneo e potrà chiederne la modifica.

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