AIMS AND CONTENT

LEARNING OUTCOMES

In-depth knowledge about inheritance as it occurs in human beings, and comprehension of the main molecular and cellular mechanisms related to the pathogenesis of inherited and acquired diseases.

AIMS AND LEARNING OUTCOMES

The course aims at deepening into the main genetic laws of inheritance, and corresponding exceptions to standard genetic transmission (dynamic mutations imprinting, etc), such as: mapping of either simple or complex genetic traits, population genetics and the effects of the inbreeding, in addition to the human genome organization, the molecular basis of the inherited diseases, the genotype-phenotype correlation, and the most recent identification of new disease genes through the next generation sequencing (NGS) approach.

At the end of the course the student will be able to interpret and evaluate data of recurrence of genetic disorders both within families and inside population.

TEACHING METHODS

The course is organized in frontal lessons held in English. The topics included in the syllabus will be explained by the professor through PowerPoint presentations. Students will be triggered to ask questions and formulate answers in interactive modality. During the course lessons may be organized where students will be encouraged to discuss with the professor scientific papers related to the syllabus.

In addition student will attend a few practical sessions to solve genetic problems

SYLLABUS/CONTENT

Outline of the history of the human genetics

Most studied human traits: genetic diseases and OMIM

Simple Mendelian inheritance (autosomal dominant, autosomal recessive and X-linked)

Exception/complication to simple inheritance:

-           reduced penetrance, variable expressivity, lethal and de novo mutations

-           genetic heterogeneity and complementation

-           phenotypic diversity and allelic series

-           Genomic imprinting

-           anticipation and dynamic mutations

Genetic mapping simple Mendelian characters

DNA polymorphisms (RFLP, VNTR, microsatellites, SNPs)

Informative families and recombinant and parental genotypes

Mapping through identity by descend (autozygosity)

Complex genetic inheritance: polygenic theory of quantitative and semi-quantitative traits

How to estimate the genetic component in complex diseases: heritability, relative risk and monozygous twin concordance

Genetic mapping of complex traits and linkage disequilibrium

Non parametric linkage analysis::

-           affected sib pairs analysis

-           case-control association study

-           family-based association study: trasmission disequilibrium test

Cytogenetics: human karyotype, FISH and array CGH

The mutation: classification criteria

Pathogenic mechanisms with examples

(gain- and loss-of-function mutations, splicing mutations, RNA-mediated and NMD-mediated pathogenesis, triplete expansions, epigenetics, etc)

Population genetics

Genotype and allele frequencies, Hardy-Weinberg equilibrium (HWE) and affecting factors: mutation, selection, migration, population dimension

RECOMMENDED READING/BIBLIOGRAPHY

Lecture notes and reviews covering the whole course will be available for the students in Aulaweb. In addition, students will be provided with files containing genetic problems with solutions

TEACHERS AND EXAM BOARD

Exam Board

CLAUDIA CANTONI (President)

ISABELLA CECCHERINI (President)

NICOLA TRAVERSO (President)

LESSONS

LESSONS START

II semester, March 2019

Class schedule

HUMAN GENETICS AND LABORATORY

EXAMS

EXAM DESCRIPTION

The exam is carried out in English and consists of a written test with genetic problems and open questions. Student will be offered with the possibility to split the full test into three partial smaller tests. The final evaluation will be achieved by the mean of the three tests as well as on the basis of the presentation of a scientific article that each of them will face with during the semester. A possible oral test will be devoted to those students who want to improve their final score

ASSESSMENT METHODS

The written modality of the exam will allow to test students on most of the content of the course, by assessing their knowledge on human genetics, as well as the acquired ability to connect different topics and to solve genetic problems.

Proficiency in English language will not be evaluated, but it must be sufficient to show the students’ knowledge of the subjects, with an adequate level of linguistic expertise, especially in scientific language.

Exam schedule