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Researchers funded in part by the EU have discovered that five genes play a key role in determining human facial shapes. Presented in the journal PLoS Genetics, the genome-wide association study on facial phenotype can help scientists identify more genes for other complex human phenotypes, including height. The research can help advance our understanding of the complex molecular interactions governing normal and pathological differences in facial shape (when combined with sophisticated three-dimensional imaging techniques).
Published: 10 October 2012
One of the greatest challenges facing archaeologists and historians is to understand Man's first steps on the European continent. Such a big task almost necessitates the requirement for a big team. This is why the University of Sheffield in the United Kingdom enlisted 'citizen scientists' to help them in their crucial research into European genetic heritage. These citizen scientists were not required to have a scientific background or training, but this was balanced out by their passion for the subject. As a result citizen scientists are increasingly being empowered by the scientific community to get involved in research. The study was presented in the journal PLoS ONE.
Published: 13 September 2012
The world was gripped in an Ice Age around 19 000 years ago, leaving large tracts cold, dry and inhospitable. Much of northern Europe was covered by ice, northern areas of what is now the United Kingdom were covered in ice, while its south was little more than a polar desert. The Ice Age, however, eventually came to an end and as the ice retreated, Europe once again began to be populated by human beings. New research drawing in expertise from the Czech Republic, Estonia, Italy, Russia and the United Kingdom is giving us rare insight into how Europe became repopulated as the Ice Age ended. The findings were published in the American Journal of Human Genetics.
Published: 5 July 2012
An international team of researchers has discovered 32 previously unidentified genetic regions linked with osteoporosis and fracture. Presented in the journal Nature Genetics, the study identified that variations in the deoxyribonucleic acid (DNA) sequences in these regions confer either risk or protection from the disease that weakens bone. Most regions encode proteins involved in pathways that concern the health of bone. The study was funded in part by the GEFOS ('Genetic factors for osteoporosis') project, which has received almost EUR 3 million under the Health Theme of the EU's Seventh Framework Programme (FP7).
Published: 9 May 2012
Monogenic diabetes is triggered by mutations of a small number of genes, resulting in disrupted insulin production. Around half of the patients suffering from monogenic diabetes seem to carry a mutation in the glucokinase (GCK) gene. To date, more than 600 GCK mutations have surfaced, and around 65% of these are missense, what experts define as a genetic change resulting in the substitution of one amino acid in a protein for another. Researchers in Slovakia and the United Kingdom have identified the minimum prevalence of GCK-monogenic diabetes among Slovaks. They sequenced GCK in 100 Slovaks with a phenotype consistent with GCK-monogenic diabetes. The team also investigated, through family and functional studies, how identified variants can cause disease. Presented in the journal PLoS ONE, the study was backed by the CEED3 ('Collaborative European effort to develop diabetes diagnostics') project, which has clinched EUR 3 million under the Health Theme of the EU's Seventh Framework Programme (FP7).
Published: 8 May 2012
Researchers in Europe and the United States have identified a novel epilepsy gene for idiopathic epilepsy in Belgian Shepherds in the canine chromosome 37. Presented in the PLoS ONE journal, the findings fuel our understanding of the genetic background of the most common canine epilepsies, and provide insight into common epilepsies in humans. The study was funded in part by the LUPA ('Unravelling the molecular basis of common complex human disorders using the dog as a model system') project, which is backed under the 'Health' Theme of the EU's Seventh Framework Programme (FP7) to the tune of EUR 12 million.
Published: 17 April 2012
Researchers in China, Italy and the United Kingdom have discovered what gene is responsible for blood orange pigmentation, and how it is controlled. The results, presented in the journal The Plant Cell, could help improve the growth of health-promoting blood oranges and lead to novel solutions for patients suffering from cardiovascular disease, obesity and diabetes. The study was partially supported by two EU-funded projects: FLORA and ATHENA. FLORA ('Flavonoids and related phenolics for healthy living using orally recommended antioxidants') received EUR 3.3 million under the 'Food quality and safety' Thematic area of the EU's Sixth Framework Programme (FP6). ATHENA ('Anthocyanin and polyphenol bioactives for health enhancement through nutritional advancement') has received almost EUR 3 million under the 'Food, agriculture and fisheries, and biotechnology' Theme of the EU's Seventh Framework Programme (FP7).
Published: 10 April 2012
A European team of scientists has discovered that thrombocytopenia with absent radii (TAR), a rare inherited blood and skeletal disorder, is triggered by low levels of the protein Y14. Presented in the journal Nature Genetics, the findings could help lead to the development of a medical exam that permits prenatal diagnosis and genetic counselling in families affected by TAR. The study was funded in part by the NETSIM ('An integrated study on three novel regulatory hubs in megakaryocytes and platelets, discovered as risk genes for myocardial infarction by a genome-wide association and platelet systems biology study') project, which is backed by a Marie Curie Action 'Networks for Initial Training' grant worth EUR 2.85 million under the EU's Seventh Framework Programme (FP7).
Published: 30 March 2012
Scientists in Cameroon, the Netherlands, the United Kingdom and the United States have discovered that chimpanzee populations living in pretty close proximity are considerably more different genetically than are humans living on different continents. The study shows that genomics can play a key role in chimpanzee conservation. Presented in the journal PLoS Genetics, it was funded in part by the EUPRIM-NET ('European primate network: specialised infrastructures and procedures for biological and biomedical research') project, which clinched more than EUR 4.7 million under the Infrastructures Thematic area of the EU's Sixth Framework Programme (FP6). EUPRIM-NET allowed in particular the scientists to access samples available at the partner research infrastructures.
Published: 28 March 2012
Researchers in France, the United Kingdom and the United States have shed new light on how plants swap genes from plant to plant to help stimulate their evolutionary development. The findings, presented in the journal Current Biology, highlighted that enzymes key to photosynthesis had been shared among plants with only a distant ancestral relationship, and that the metabolic cycle of the recipient plant absorbed the genes, contributing to adaptation. The study was funded in part by a Marie Curie grant under the EU's Seventh Framework Programme (FP7).
Published: 21 March 2012