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Geneticist Mary-Claire King receives the 2013 Paul Ehrlich Prize
Date:3/14/2013

patent awarded to Myriad Genetics.

Mary-Claire King's research achievements have permanently changed thinking about genetics in complex common diseases. By identifying the BRCA1 gene, she showed that mutations also play a role in these diseases. Until then, genetics had only been concerned with monogenetic diseases. These are conditions in which damage to a single gene leads to a specific disease. In other words, the mutation is equivalent to the disease. A good example is Huntington's chorea. King showed that mutations are also involved in complex, multifactorial diseases, which may in addition be influenced by environmental and lifestyle factors. The discovery of BRCA1 and BRCA2 as well as of other breast cancer genes has led to the widespread establishment of programs specifically designed for women with hereditary breast cancer. In Germany, too, there is a Consortium for Family Breast and Ovarian Cancer with twelve centers all over the Federal Republic. At these centers, women can receive genetic counseling and take tests for possible mutations. Mary-Claire King's discoveries have revolutionized the way we approach hereditary breast cancer.

Other disease genes and the genetic basis of diversity

Mary-Claire King has identified a number of other disease genes in the past decades. The conditions in which these disease genes are involved include inherited deafness, schizophrenia, autism, and systemic lupus erythematosus. Together with colleagues from Costa Rica, King mapped and later cloned the first autosomal gene for inherited deafness. This gene was named DFNA1. Working with colleagues from Israel and Palestine, she identified four further genes for this disease. Inherited deafness is an especially frequent condition in the Middle East. Professor King is currently interested especially in the study of schizophrenia. "We have found evidence that many cases of schizophrenia can be traced back to mutations that occur during the development
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Contact: Dr. Hildegard Kaulen
Paul-Ehrlich-Stiftung@pvw.uni-frankfurt.de
49-612-252-718
Goethe University Frankfurt
Source:Eurekalert  

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Geneticist Mary-Claire King receives the 2013 Paul Ehrlich Prize
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