Aims & Learning Objectives:
Aims: To explore the cellular and molecular basis of various human developmental disorders with a genetic or epigenetic basis. To investigate how different experimental approaches can be used to provide understanding of these disorders.
After taking this course the student should be able to:
* Understand how and why various techniques have been applied to the study of gene function in developmental disorders.
* Evaluate the appropriate literature to determine the key facts that lead to our current understanding of the basis of a genetic disorder.
* Evaluate the value and limitations of various experimental approaches in forming conclusions about a given disorder.
* Present oral and written reports that form concise and up-to-date summaries of our knowledge of a genetic disorder.
Content:
Developmental diseases may include the following syndromes: albinism, Angelman, Beckwith-Wiedemann, Denys Drash, Frasier, Hirshprung's, piebaldism, Prader-Willi, Rett, Silver-Russell, Waardenburg. Experimental approaches to encompass human molecular genetic studies (including screening for mutations, analysis of pedigrees and distinction of polymorphisms from causal mutations), techniques for evaluating mutant protein function (biochemically and in cell culture), and use of animal models.
|
