Lecture

Prader-Willi Syndrome: Genetic Deletions and Critical Genes

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In course

BIO-109: Introduction to life sciences (for IC)

Ce cours présente les principes fondamentaux à l'œuvre dans les organismes vivants. Autant que possible, l'accent est mis sur les contributions de l'Informatique aux progrès des Sciences de la Vie. ...

Description

This lecture covers the history of Prader-Willi syndrome, first described in 1956 by Swiss pediatricians. It explains the genetic basis of the syndrome, focusing on large deletions in chromosome 15 and the critical genes involved. Experimental lesions in the hypothalamus are discussed, highlighting the impact on appetite regulation. The detection of deletions using molecular tests like FISH and PCR is explained, emphasizing the importance of accurate diagnosis. The concept of critical genes, such as SNORD116 for binge eating and UBE3A for Angelman syndrome, is explored. The lecture also addresses the risk factors for recurrence, the role of snoRNA genes, and the significance of meiotic deletions in disease causation.

Instructor

Romain Zufferey

Teaching & PhD Courses Biology for engineers MSE-212 This course consists of an introduction to biology and more particularly to biology as a multidisciplinary field, emphasizing natural examples of materials engineering. It should therefore allow engineering students to find inspiration from biology in future materials research problems. Cellular biology and biochemistry for engineers BIO-105 Basic course in biochemistry as well as cellular and molecular biology for non-life

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