Genetics and Disease

  • James Kelley
  • Robert P. Kimberly


Relationships between genes and diseases have long been hypothesized. The association of a disease with a gene dates back in Western medicine as far as Hippocrates, who hypothesized epilepsy was caused by a singular hereditary unit of biological material. However, with technological advances and the completion of the human genome sequence (1), scientists can now associate specific genetic variations with clinical conditions. Genetic associations provide informative clues for developing new diagnostic and therapeutic techniques to improve patient care. Understanding the principles that underlie genetic studies will become an essential skill for clinicians if we are to appreciate the complexity of genetic contributions to disease and its treatment (Table 5-1).


Systemic Lupus Erythematosus Linkage Disequilibrium Cystic Fibrosis Major Histocompatibility Complex Linkage Study 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • James Kelley
    • 1
  • Robert P. Kimberly
    • 2
  1. 1.Department of Medicine, Division of Clinical Immunology and RheumatologyUniversity of Alabama at BirminghamBirminghamUSA
  2. 2.Division of Clinical Immunology and Rheumatology, Senior Associate Dean for Research, Department of MedicineUniversity of Alabama at BirminghamBirminghamUSA

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