Biochemistry 158/258



Genomics, Bioinformatics & Medicine

Doug Brutlag

Diseases and Disease Databases


Lecture Materials

  1. Diseases and Disease Databases Slides

  2. Diseases and Disease Databases Lecture Video on Course web site

  3. Genomics and Mendelian Diseases

  4. Huntington Disease

    1. Cassandra's Connundrum

    2. Nancy Wexler

    3. BBC Report on Nancy Wexler in Venezuela

    4. Francis O. Walker - Review of Huntington Disease 2007

    5. Molecular Mechanisms of Huntington Disease

    6. Huntington Consortium Publication of Gene

    7. Adverse Psychological Events one year after diagnosis

    8. Adverse Psychological events five years after diagnosis

    9. Facing Life with a Lethal Gene

    10. Testing for Huntington Disease: Making an Informed Choice

    11. Towards a Cure for Huntington Disease

    12. Stanford freshman to release documentary on dealing with family history of Huntington's

Web Resources For the First Homework

  1. NIH Medline Plus

  2. NIH Office of Rare Diseases Research

  3. NIH Genetic and Rare Diseases Information Center (GARD)

  4. Clinical Trials Database

  5. NCBI Genes and Diseases

  6. NCBI GeneTests and GeneReviews Database

  7. NCBI Genetics Home Reference

  8. NCBI Genetics Home Reference Handbook

  9. NCBI OMIM Database

  10. NCBI Human Genome

  11. NCBI Genomes

  12. NCBI Gene

  13. HGNC Human Gene Nomenclature Committee

  14. HGMD Human Gene Mutation Database

  15. MalaCards - human disease database

  16. EuroGentest: Clinical Utility Gene Cards

Recent Disease Database References

Other Literature References

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.

Other Resources Available Only to Stanford Students (SUNET ID Required)

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



First Homework Assignment

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.