The €100,000 Paul Ehrlich and Ludwig Darmstaedter Prize goes this year to Mary-Claire King, American Cancer Society Professor in the Department of Genome Sciences and Medicine at the University of Washington in Seattle. Mary-Claire King is being awarded the prize for her outstanding research achievements in the field of human genetics. She is one of the world's leading geneticists in the area of cancer and forensic genetics.
"Mary-Claire King was the first to demonstrate that there is a genetic predisposition for breast cancer. This proof has permanently changed thinking about the genetics of common complex diseases," wrote the Scientific Council of the Paul Ehrlich Foundation in explaining its decision. Professor King has also worked for decades in identifying the victims of human rights violations around the world. The Scientific Council continued: "She makes it clear that genetics can benefit humanity." The award ceremony will take place today, the 159th birthday of Paul Ehrlich, in the Paulskirche, Frankfurt. Awarded annually since 1952, the Prize is among the most highly respected international prizes awarded in the Federal Republic of Germany in the field of medicine.
Breast and ovarian cancers are inherited as an autosomal dominant trait in some families. King has shown that some of the mutations responsible are to be found in a gene that she called BRCA1, which stands for breast cancer susceptibility gene 1. Genes are therefore also involved in complex, multifactorial diseases, which may in addition be influenced by environmental and lifestyle factors. Since the discovery of BRCA1, BRCA2 and other breast cancer genes, programs for women suffering from these types of cancer have been established everywhere. King's discoveries and her calculations for the risk of falling ill with breast or ovarian cancer have fundamentally changed the management of hereditary breast cancer.
The prizewinner has also identified other disease genes. The conditions they cause include inherited deafness, schizophrenia, autism, and systemic lupus erythematosus. Mary-Claire King is also highly respected for her humanitarian commitment. She uses genetic technologies to expose violations of human rights. Since 1984 she has been working with the grandmothers of Plaza de Mayo in Argentina. These grandmothers are demanding the return of their grandchildren to their biological families. The children were kidnapped by the military junta between 1976 and 1983, orphaned and given up for adoption to sympathizers of the junta. Mary-Claire King provides sound proof of the biological kinship of the children. She also works with the UN War Crimes Tribunal and has identified the victims of war, terror and torture in countries such as Cambodia, Guatemala, El Salvador, Rwanda, Ethiopia and Bosnia.Short biography of Professor Dr. Mary-Claire King
Background on the award of the 2013 Paul Ehrlich and Ludwig Darmstaedter Prize to Professor Dr. Mary-Claire King
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
King has also developed methods for the use of genetics in forensic science, for instance, by isolating mitochondrial DNA from a person's bones and teeth. The mitochondria are the cells' power plants. Mitochondrial DNA is interesting for a very particular reason, which is that it always derives from the mother. We know this because the part of the male sperm that fertilizes the ovum does not contain any mitochondria. Consequently, while both sons and daughters have the same mitochondrial DNA as their mothers, it is the daughters who hand this DNA on to their descendants. That means that all female descendants of a maternal line necessarily have the same DNA in their mitochondria. Armed with this knowledge, it is possible to determine the female line of descent beyond the shadow of a doubt. King succeeded in extracting this mtDNA from teeth. Many human skeletal remains have degraded so completely that it is no longer possible to examine hair or tissue, while the DNA in the bones is often too damaged to allow unambiguous identification. DNA is best preserved in the teeth, which is why nowadays it is often the teeth of a dead person that are investigated in order to rediscover the victim's name, identity, life story, and sufferings. King works together with the UN's War Crimes Tribunal. Her laboratory is classified as a secure DNA Identification Lab to which no belligerent party or terrorist regime can have access. King and her co-workers have in the past identified victims from Cambodia, Guatemala, El Salvador, Rwanda, Ethiopia and Bosnia. She was involved in the unambiguous identification of the Romanovs, the last Czarist family, whose members were shot the night of July 17, 1918 in Yekaterinburg and then buried in the forest. "Because forensic genetics enjoys a high standard worldwide, we are only consulted nowadays in special cases or if unimpeded analysis does not seem possible," says King about her commitment in this field today. Her work has defined benchmarks for decades.Further information
Dr. Anne Hardy | idw
Further reports about: > BRCA mutation > BRCA1 > BRCA1 gene > BRCA2 > Cancer > DNA > DNA sequence > Gates Foundation > Genome Sciences > breast cancer > genetic disease > genetic makeup > genetic predisposition > human genome > human rights > mitochondrial DNA > ovarian cancer > systemic lupus erythematosus > tumor suppressor gene
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