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The genomic era has produced an extensive catalog of human genes and genetic variation that is expected to become even more detailed with the addition of the rich data emerging from the 1000 Genomes Project (http://www.1000genomes.org).
Archives of Ophthalmology (Genetica e Malattie Rare) - Mer, 14 Luglio 2010
http://archopht.ama-assn.org/
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The completion of three pilot projects designed to determine how best to build an extremely detailed map of human genetic variation begins a new chapter in the international project called 1,000 Genomes , said the director of the Baylor College of Medicine Human Genome Sequencing Center, a major contributor to the effort.
Baylor College of Medicine (Genetica e Malattie Rare) - Mer, 23 Giugno 2010
http://www.bcm.edu
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For the first time, human embryonic stem cells have been cultured under chemically controlled conditions without the use of animal substances, which is essential for future clinical uses. The method has been developed by researchers at Karolinska Institutet and is presented in the journal Nature Biotechnology.
Karolinska Institutet (Genetica e Malattie Rare) - Mar, 8 Giugno 2010
http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en
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On May 20, 2010, after 15 years of research that cost US$40 million, Gibson and colleagues reported the creation of a synthetic bacterial cell at the J Craig Venter Institute (Rockville, MD, and San Diego, CA, USA) in Science. In this proof-of-principle study, the researchers used a computer to design a synthetic genome sequence that was based on the genome sequences of two laboratory strains of Mycoplasma mycoides subsp capri. The synthetic genome was transplanted into Mycoplasma capricolum subsp capricolum to create a synthetic M mycoides cell. The properties manifested by the recipient bacterium were controlled by the donor bacterium's modified genome.
The Lancet (Genetica e Malattie Rare) - Mar, 8 Giugno 2010
http://www.thelancet.com
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Scientists in the US succeed in developing the first living bacterial cell to be controlled entirely by synthetic DNA.
BBC News (Genetica e Malattie Rare) - Lun, 24 Maggio 2010
http://news.bbc.co.uk
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The unique resources available in the Nordic region, such as civic registration numbers and the registries of genetically informative populations and health outcomes, make it an epidemiological goldmine. The LifeGene project is being coordinated by the Swedish medical university Karolinska Institutet to take advantage of Sweden's competitive edge in this field. Today, LifeGene is being launched into the international scientific scene at BIO 2010 in Chicago, the world's largest biotech conference.
Karolinska Institutet (Genetica e Malattie Rare) - Lun, 10 Maggio 2010
http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en
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Chronic pain may induce reprogramming of numerous genes in the peripheral nervous system, new research suggests.
Medscape (Genetica e Malattie Rare) - Lun, 10 Maggio 2010
http://www.medscape.com
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The identification of three genes which account for 70% of cases of a painful bone condition could lead to a screening test, say researchers.
BBC News (Genetica e Malattie Rare) - Lun, 3 Maggio 2010
http://news.bbc.co.uk
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Regenerative medicine is a fast-developing, dynamic research field that deals with replacing lost cells and tissue with new cells. The world´s most eminent researchers in the field are to congregate in Stockholm on 14 to 16 April to participate in the Nobel Conference on Regenerative Medicine.
Karolinska Institutet (Genetica e Malattie Rare) - Lun, 19 Aprile 2010
http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en
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Trisomy of human chromosome 21 (Hsa21) results in Down syndrome (DS), a disorder that affects many aspects of physiology, including hematopoiesis.
Blood (Genetica e Malattie Rare) - Mar, 13 Aprile 2010
http://www.bloodjournal.org/