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

ere dramatically reduced over the treatment period, and patient complaints of severe bone pain were significantly reduced after only two years of therapy.

"This study is the first of its kind to document the long-term effectiveness of enzyme replacement therapy in children with type 1 Gaucher disease," said Andersson. "This study should prove to be a very useful tool for pediatricians who can use these results as a guideline for tracking the progress of their patients over multiple years of treatment."

Hans C. Andersson, M.D., FACMG, is the Karen Gore Professor of Human Genetics and Director of the Hayward Genetics Center at Tulane University Medical School, where he directs the Biochemical Genetics Lab. He also serves as a Regional Coordinator for the International Collaborative Gaucher Group. Andersson's research has elucidated clinical features and pathophysiology of inherited metabolic genetic disorders.

COMMON AND CANCER TYPE-SPECIFIC LOSS-OF-HETEROZYGOSITY (LOH) IN THE TUMOR STROMA AND EPITHELIUM OF 3 CARCINOMA TYPES ASSOCIATED WITH CLINICAL OUTCOME

A team of researchers led by Charis Eng, M.D., Ph.D., Chair and Director of Cleveland Clinic's Genomic Medicine Institute, has found that in-common genetic alterations in both cancerous cells and the surrounding normal-looking cells (called tumor microenvironment or stroma) play an important role in predicting and dictating the outcome of three cancer types: breast cancer (BC), prostate cancer (CaP) and head neck squamous cell carcinomas (HNSCC). The findings not only offer important clues into how a cancer and its micro-environment interact, but show that in-common biomarkers may be important for prognosis among several solid tumor types.

Eng's research team hypothesized that frequent genetic alterations are in-common in BC, CaP and HNSCC, but genetic alterations that are associated with clinicopathological features are unique for specific cancer types. The stu
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Contact: Kristen Long
klong@ashg.org
240-281-2386
American Society of Human Genetics
Source:Eurekalert

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