Biochemistry 118

Genomics & Medicine

Doug Brutlag

Diseases and Disease Databases

 

Lecture Materials

  1. Introduction Slides

  2. Diseases and Disease Databases Slides

  3. Huntington Disease

    1. Cassandra's Connundrum

    2. Nancy Wexler

    3. Francis O. Walker - Review of Huntington Disease

    4. Huntington Consortium Publication of Gene

Web Resources For the First Homework

  1. NCBI Genes and Diseases Online Book

  2. GeneTests and GeneReviews Database

  3. NCBI Genetics Home Reference

  4. NCBI OMIM Database

  5. Karolinka Diseases and Disorders Web Site

  6. NCBI Entrez Gene

  7. Human Gene Nomenclature Committee

  8. Human Gene Mutation Database

  9. NCBI Human Genome Home Page

  10. HOPES: Huntington Outreach Program for Education at Stanford

 

Case Presentation Homework Asignment

Please chose a single gene disease from one of the Disease databases above (Genes and Diseases, OMIM or Diseases and Disorders) and prepare a 10 minute or less presentation on the disease to the class. Please include 1) the classical diagnostic methods, 2) the classical treatment of the disease, 3) any novel diagnostics that have resulted from knowing the causative gene and 4) any novel understanding of the disease that has lead to novel therapy based on genetic knowledge.

(You will need Adobe Acrobat Reader to read these documents)