Doug Brutlag

Mendelian Disease Case Presentation Project

Please choose a single gene, Mendelian disease from one of the disease databases (Genes and Diseases, Genetics Home Reference, Gene Reviews. Online Inheritance in Man (OMIM)) and prepare a written case presentation of the disease (4 pages max of double spaced text. Figures, Tables and References need not be included in this limit, just the written text). The Genes and Disease database is the most efficient for finding Mendelian Diseases.

Please Include:

1. a URL pointer to the OMIM or Gene Reviews entry for your disease

2. a basic description of the disease and its symptoms

3. the classical (pre-genetic) differential diagnosis of the disease

4. the classical (pre-genetic) treatment of the disease

5. description of genetics of the disease including world and ethnic distribution of the disease gene

6. any novel diagnostics that have resulted from knowing the genetics

7. any novel understanding of the disease that has lead to novel therapy based on genetic knowledge.

Please remember that this is a research report, not a list of short answers. You should write full paragraphs on each of the topics above.

© Doug Brutlag 2015