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Genetic disease treatments and pharmacogenetics: From scientific discovery to medical delivery
Date:11/14/2008

a successful enzyme replacement therapy for children with Type I Gaucher Disease, and new research findings that offer important new clues that will facilitate more precise and compartment-specific cancer treatment options.

Brief summaries of the major research findings reported in these four abstracts are included below:

GENOME-WIDE ASSOCIATION SCAN FOR GENETIC DETERMINANTS OF WARFARIN DOSE

A growing number of geneticists are using genome-wide association studies (GWAS) to systematically search for and identify single nucleotide polymorphisms (SNPs), which are single base changes in the human DNA sequence that can cause differences in genetic characteristics. GWAS may also detect genes that are associated with a particular health condition, or with variation in patient response to prescribed drugs.

In this session, Ralph E. McGinnis, Ph.D., a Statistical Geneticist at the Wellcome Trust Sanger Institute (Cambridge, UK), will discuss the results of new research that that he and his colleagues have recently completed which extends this genome-wide association scan (GWAS) method to investigate the genetic aspects of drug response (pharmacogenetics) related to predicting appropriate warfarin dose.

Warfarin is the most widely prescribed drug used to reduce blood clotting in order to protect high-risk patients from experiencing a stroke, deep vein thrombosis, pulmonary embolism, heart attack, or other serious coronary malfunction. However, a combination of genetic and non-genetic factors can cause patients to exhibit 10- to 20-fold variation in the required dose (RD) of warfarin needed to achieve an adequate level of blood thinning, which means that initial prescribed doses may be too low (risking blood clots and/or failure to protect the patient from developing life-threatening health conditions, such as stroke or heart attack) or too high (risking over-anticoagulation and severe bleeding). Therefore, associated SNPs
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Contact: Kristen Long
klong@ashg.org
240-281-2386
American Society of Human Genetics
Source:Eurekalert

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