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June 17, 2007

Gene responsible for common hearing loss identified for first time
A gene responsible for the single most common cause of hearing loss among white adults, otosclerosis, has been identified for the first time, a scientist told the annual conference of the European Society of Human Genetics in Nice, France, today (Sunday 17 June). Ms Melissa Thys, from the Department of Medical Genetics, University of Antwerp, Belgium, said that this finding may be a step towards new treatments for otosclerosis, which affects approximately 1 in 250 people.

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Non-invasive screening in early pregnancy reduces Down’s births by 50%
Nice, France: Non-invasive screening of pregnant women with ultrasound early in pregnancy, combined with maternal blood analysis, has reduced the number of children born in Denmark with Down Syndrome by 50%, a scientist will tell the annual conference of the European Society of Human Genetics today (Sunday 17 June). Professor Karen Brøndum-Nielsen, of the Kennedy Institute, Glostrup, Denmark, will say that another benefit of the introduction of this procedure in her country was a drop in the number of invasive pre-natal diagnostic procedures from 11% to approx. 6% of pregnancies.

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Changes in chromosomal constitution of preimplantation embryos suggest caution in genetic screening
Nice, France: Embryos that are selected out as abnormal can undergo chromosomal modifications, a scientist will tell the annual conference of the European Society of Human Genetics in Nice, France, today (Tuesday 19 June). Ms Tsvia Frumkin, from the Racine IVF unit, LIS Maternity Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel, will tell the conference that her team’s findings meant that the results of preimplantation genetic screening (PGS) for chromosomal abnormalities were not always reliable and should be interpreted with caution.

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Children born after PGD as healthy as those born after conventional IVF treatment
Nice, France: Children born after embryo biopsy for preimplantation genetic diagnosis (PGD) do not show any more major malformations than those born after artificial reproduction technologies (ART) without PGD, a scientist will tell the annual conference of the European Society of Human Genetics today (Sunday June 17). Professor Ingeborg Liebaers, from the Research Centre for Reproductive Genetics, Free University of Brussels, Brussels, Belgium, will say that the results of her study of 583 children born after PGD was reassuring.

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Ancient Etruscans were immigrants from Anatolia (now Turkey) – geneticists find the final piece in the puzzle
Nice, France: The long-running controversy about the origins of the Etruscan people appears to be very close to being settled once and for all, a geneticist will tell the annual conference of the European Society of Human Genetics today (Sunday June 17). Professor Alberto Piazza, from the University of Turin, Italy, will say that there is overwhelming evidence that the Etruscans, whose brilliant civilisation flourished 3000 years ago in what is now Tuscany, were settlers from old Anatolia (now in southern Turkey).

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Human genetic ‘deserts’ are teeming with significant life
Nice, France: Many of the areas of the human genome previously thought to be deserts are in fact teeming with life, a scientist will tell the annual conference of the European Society of Human Genetics today (Tuesday 19 June). Most known human genes in the genome map are still incompletely annotated, says Professor Alexandre Reymond, from the Centre for Integrative Genomics, University of Lausanne, Switzerland and the Department of Genetic Medicine, University of Geneva, Geneva, Switzerland. “We found that the vast majority of the protein coding genes we studied utilised often in a tissue-specific manner previously unknown set of exons [the regions of DNA within a gene that are transcribed to messenger RNA] outside the current boundaries of the annotated genes ”, Professor Reymond will say.

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July 1, 2005

EPO upholds limited patent on BRCA2 gene: singling out an ethnic group is a ‘dangerous precedent’ says European Society of Human Genetics
Following the decision of the European Patent Office (EPO) to uphold the slimmed-down version of University of Utah Research Foundation’s European patent on the BRCA2 breast cancer gene, Professor Gert Matthijs, from the Department of Human Genetics, Catholic University of Leuven, Belgium, and chair of the ESHG Patenting and Licensing Committee, said: “The patent owners have been able to rescue a small bit of their original patent on BRCA2 testing by putting Ashkenazi women into their claim. This apparently renders the test for the 6974delT mutation, which happens to be frequent in the Ashkenazi population, inventive, novel and industrially applicable. ..."

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June 15, 2005

Geneticists oppose singling out Jewish women in European breast cancer patent
Jewish women in Europe may face genetic discrimination in access to breast cancer diagnosis if the patent on the BRCA2 gene, which is currently being disputed, is not withheld by the European Patent Office (EPO) on June 29. The European Society for Human Genetics (ESHG) is strongly opposed to the selection of a particular racial group as a diagnostic target in a gene patent claim and is calling on the EPO to take action to prevent this situation.

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