Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.
MalaCards: an integrated compendium for diseases and their annotation.
The Disease and Gene Annotations (DGA): an annotation resource for humandisease.
GWASdb: a database for human genetic variants identified by genome-wide association studies.
Disease and phenotype data at Ensembl.
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.
Analysis of complex disease association and linkage studies using the University of California Santa Cruz Genome Browser.
Henry Stewart Talks
Diseases, Disorders & Treatments
Medical Grand Rounds
Muin Khoury, Director Office of public Health CDC - –Genomic Medicine in the 21st Century From Science to Action
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.
a URL pointer to the OMIM or Gene Reviews entry for your disease
a basic description of the disease and its symptoms
the classical (pre-genetic) differential diagnosis of the disease
the classical (pre-genetic) treatment of the disease
description of genetics of the disease including world and ethnic distribution of the disease gene
any novel diagnostics that have resulted from knowing the genetics
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.