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Fiche de cours

Une introduction à la génétique médicale via des maladies endocriniennes et métaboliques - 47a/Série 2

An introduction to medical genetics through the prism of endocrine and metabolic diseases

Faculté de gestion: Ecole doctorale (FBM-DOCT)

Responsable(s): Nelly Pitteloud, Gerasimos Sykiotis

Période de validité: 2013 -> 2014

Pas d'horaire défini.

Tutorial

Annuel

Langue(s) d'enseignement: anglais
Public: Oui
Crédits: 0

Objectif

At the end of the course participants will be able to:
1. Know when to suspect a genetic cause of disease.
2. Recognize simple and complex modes of inheritance.
3. Recognize the current and emerging technologies for genetic diagnosis and research.
4. Read and present medical literature on genetic diseases. 5. Describe different applications of genetics in endocrinology and metabolism.

Contenu

1. From genes to genetics, the structure and function of DNA, phenotypes and genotypes.
2. Mendelian genetics, rare variants, modes of inheritance, penetrance, expressivity.
3. Common and rare variants in common diseases.
4. Sanger sequencing, next-generation sequencing, DNA arrays, linkage, genome-wide association studies.

Evaluation

Travail personnel de préparation: oui
Présentation personnelle: oui
Test final: non
Evaluation de la participation par l'enseignant: non

Bibliographie

1) Introduction to genetics: a molecular approach. ISBN-13: 978-0815365099.
2) A primer of genome science. ISBN-13: 978-0878932368

Exigences du cursus d'études

Recommended: Undergraduate or graduate course in genetics or molecular biology

Canton de Vaud
Swiss University
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