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Fiche de cours

Human Molecular Genetics - ED 23/

Faculté de gestion: Ecole doctorale (FBM-DOCT)

Responsable(s): Carlo Rivolta

Période de validité: 2013 ->

Pas d'horaire défini.

Cours (optionnel)

Annuel

Langue(s) d'enseignement: anglais
Public: Oui
Crédits: 1.50

Objectif

- Provide advanced knowledge on human molecular genetics
- Learn how to exploit the massive amounts of data stored in in silico repositories for specific experimental purposes
- Understand the bases of functional analyses of genes involved in inherited disease via the use of cellular and animal models

Contenu

- The course will take monogenic hereditary conditions in humans as an example to describe the link between DNA variants and phenotypes
- Classes will follow the threads "from observation to the DNA", "from the DNA to the gene" and "from gene to function" to illustrate classical scenarios of genetic investigations in humans
- Several experimental strategies leading to the identification and the validation of DNA variants determining simple human phenotypes will be described
- The program will rely heavily on "hands-on" approaches, allowing the student to perform practical exercises by using the information present in on-line databases. All classes will be held in a room equipped with individual computers connected to the internet

Evaluation

Final test that will take place in January/February (date will be provided during the course).

Bibliographie

In principle, no textbook is needed. However, additional information related to the course can be found in:
- Strachan & Read, Human Molecular Genetics, 3rd issue. Garland Science Ed. ISBN 0-8153-4184-9

Exigences du cursus d'études

- Knowledge of concepts of genetics and molecular biology

Conditions d'octroi

Participation et réussite du test final attestées par les responsables.

Conditions d'accès

Inscription: auprès de l'Ecole doctorale. Série 1.

Informations supplémentaires

www.unil.ch/dgm

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