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Card-index course

An introduction to medical genetics through the prism of endocrine and metabolic diseases/Une introduction à la génétique médicale via des maladies endocriniennes et métaboliques - 48a/Série 3

Responsible Faculty: Doctoral school (FBM-DOCT)

Teacher(s): Nelly Pitteloud, Gerasimos Sykiotis

Validity: 2015 ->

Course Timetable (Aperiodic)

Date Location Notice Topics Lecturer(s)
28.02.2020 de 09:00 à 11:00 Salle des colloques (1ère étage), Service EDM, Hôtel des patients (cité CHUV), Avenue de la Sallaz 8, 1005 Lausanne Overview of concepts in medical genetics Federico Santoni
06.03.2020 de 09:00 à 11:00 Salle des colloques (1ère étage), Service EDM, Hôtel des patients (cité CHUV), Avenue de la Sallaz 8, 1005 Lausanne Technologies and informatics in medical genetics Federico Santoni
13.03.2020 de 09:00 à 11:00 Salle des colloques (1ère étage), Service EDM, Hôtel des patients (cité CHUV), Avenue de la Sallaz 8, 1005 Lausanne Rare diseases, Mendelian genetics Nelly Pitteloud
20.03.2020 de 09:00 à 11:00 Salle des colloques (1ère étage), Service EDM, Hôtel des patients (cité CHUV), Avenue de la Sallaz 8, 1005 Lausanne Student presentations of selected papers Nelly Pitteloud
27.03.2020 de 09:00 à 11:00 Salle des colloques (1ère étage), Service EDM, Hôtel des patients (cité CHUV), Avenue de la Sallaz 8, 1005 Lausanne Common variants in common diseases/traits Gerasimos Sykiotis
09.04.2020 de 09:00 à 11:00 Salle des colloques (1ère étage), Service EDM, Hôtel des patients (cité CHUV), Avenue de la Sallaz 8, 1005 Lausanne Student presentations of selected papers Gerasimos Sykiotis

Tutorial

Annual
Aperiodic
Teaching language(s): English
Public: Yes
Credits: 1.00

Objective

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.
N.B.: This is NOT a clinicopathological primer on the full spectrum of endocrine and metabolic disorders.

Content

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

Preparation to a personnel work: yes
Personnel preparation: yes
Final test: no
Assessment of participation by the teacher: no

Autres informations ou remarques :
1. Ce tutoriel n'est pas un « primer » en maladies métaboliques, mais plutôt en génétique.
2. A titre exceptionnel (i.e., en cas de force majeure), une seule absence peut être excusée, mais pas une 2ème.
3. La présentation par l'étudiant est obligatoire pour l'octroi du crédit.
4. Hormis les deux conditions susmentionnées (Cf. 2 et 3), il n'y a pas d'autre critère de réussite.

Bibliography

-

Programme requirements

Recommended: Undergraduate or graduate course in genetics or molecular biology

Access requirements

Inscription with the Doctoral School. Série 3.

Additional information

http://www.chuv.ch/edm

Use contextFaculty codeStatusCredits
Doctorate in Life Sciences (2003 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Life Sciences - Ecology and Evolution (2007 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Life Sciences - Cancer and Immunology (2008 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Life Sciences - Cardiovascular and Metabolism (2005 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Life Sciences - Integrated Experimental and Computational Biology (2010 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Life Sciences - Microbial Sciences (2010 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Life Sciences - Quantitative Biology (2018 ->) ›› TutorialsED-FBMOptional1.00
Doctorate in Medecine and Sciences (MD-PhD) (2010 ->) ›› TutorialsED-FBMOptional1.00
Canton de Vaud
Swiss University
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