66159 - Medical Genomics

Learning outcomes

The course aims to provide students with an understanding of the genetic principles underlying hereditary diseases, and how innovative genomic technologies are being used to improve their diagnosis and treatment. Entirely held in the English language, the course will also help familiarize students with scientific English, encouraging them to stay current with the literature pertaining to the rapidly evolving discipline of medical genomics.

Course contents

Module 1: Lectures

• Sequencing the human genome: international projects (HGP, HapMap, 1000Genomes, Exome); sequencing technologies (from Sanger sequencing to NGS)
• Medical genetics: classes of genetic diseases, elements of genetic counseling and molecular diagnostics, pedigrees, mendelian and non-mendelian inheritance patterns, risk calculation, Hardy-Weinberg principle
• Identification of disease genes: pre- and post-genomic strategies, genetic markers, mapping, analysis of linkage,
• Mendelian diseases: autosomal dominant (Huntigton disease, Marfan Syndrome, achondroplasia, osteogenesis imperfecta), autosomal recessive (cystic fibrosis), X-linked recessive (Duchenne's muscular dystrophy); variations of mendelian inheritance (variable expressivity, genetic heterogeneity, incomplete penetrance, anticipation, germinal mosaicism, X-inactivation, oligogenic inheritance, genomic imprinting)
• Chromosomal diseases: classical and molecular cytogenetics, numerical and structural chromosomal abnormalities, genomic disorders, UPD, Angelman and Prader-Willie Syndromes
• Mitochondrial diseases
• Multifactorial diseases: heritability, susceptibility genes, polymorphisms, high throughput genotyping, GWAS
• Pharmacogenomics and personalized medicine

Module 2: Laboratory

• The students will acquire the essential skills in order to design and perform experiments of molecular genetics, including PCR and direct sequencing using Sanger method, to evaluate the presence of variations/mutations in human DNA and their role in Mendelian disorders.

• The course will be divided in two parts: a wet-lab course, where the students will prepare PCR and sequencing reactions, and a part using informatics tools, including public programs and databases, in order to analyze the obtained sequences and evaluate the presence of variants/mutations and determine their possible pathogenicity.

Readings/Bibliography

Students can consult the following sources for background and additional information:

• Human Molecular Genetics. Tom Strachan and Andrew Read. Garland Science.
• Thompson and Thompson Genetics in Medicine. Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard. Saunders/Elsevier.
• Original research articles and reviews on selected topics provided by the lecturer as pdf files.

Teaching methods

The course will be structured as follows

• frontal lectures with PowerPoint slides
• class-room excersices on human genetics (pedigrees, risk calculation, Hardy-Weinberg principle, linkage analysis)
• discussion of original research articles on topics related to the lectures
• human molecular genetics laboratory

Assessment methods

• Written exam in english consisting of multiple choice questions, true/false questions and human genetics excercises
• Students have the option of supplementing the writtan exam with an oral exan in english

Teaching tools

• Classroom with PC and projector.
• Teaching laboratory.
• Pdf files of lectures availableat Insegnamenti OnLine.

Office hours

See the website of Kerry Jane Rhoden

See the website of