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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.
Cordis - Community Research and Development Information Service - Mar, 3 Aprile 2012
http://cordis.europa.eu
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Irish researchers have made new strides in the treatment of Huntington's disease by identifying an enzyme linked with genetic mutations associated with the condition. The enzymes identified by the scientists in this new study are called histone deacetylase complexes (HDACs). When HDACs are active, they exacerbate the disease-causing mutation in cells, which the researchers believe contributes to the severity of the disorder. When the team inhibited the HDACs with experimental drugs the risk of further mutation was significantly lower.
Cordis - Community Research and Development Information Service - Mar, 6 Marzo 2012
http://cordis.europa.eu
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European team of researchers has confirmed that synaptic mutations heightens the risk of ASD. The study, presented in the journal PLoS Genetics, combined genetic and neurobiological approaches to determine how ASD risk increases. They also found how modifier genes influence these disorders.
Cordis - Community Research and Development Information Service - Mar, 6 Marzo 2012
http://cordis.europa.eu
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Around 2.3 billion adults worldwide could potentially suffer from at least 1 less urinary tract symptom by 2018, new research suggests. The study, to be presented in the October issue of the British Journal of Urology International (BJUI), demonstrates how the number of people aged 20 and over that are affected by urinary and bladder symptoms represents an 18% jump in the last 10 years. Europe, however, will report the lesser increase in number of cases compared with other regions around the globe.
Cordis - Community Research and Development Information Service - Mar, 4 Ottobre 2011
http://cordis.europa.eu
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Scientists in Spain and the United Kingdom have discovered a gene responsible for regulating chronic pain. Published in the journal Science, the finding sheds new light on how drugs can be targeted to block the protein produced by the gene in order to fight chronic pain.
Cordis - Community Research and Development Information Service - Mar, 4 Ottobre 2011
http://cordis.europa.eu
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The European Commission has published a call for proposals for Researchers' Night 2012. The Researchers' Night will be an occasion for a European-wide public and media event for the promotion of research careers. It is intended to ensure as large a geographical coverage as possible, involving a maximum number of Member States and Associated Countries. Activities should to be focused on the public at large, and feature researchers being actively involved and directly in contact with the public. Proposal deadline is January 10, 2012.
Cordis - Community Research and Development Information Service - Mar, 4 Ottobre 2011
http://cordis.europa.eu
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Protein folding is necessary for the function of three-dimensional structures in the body. However, some parts of functional proteins can remain unfolded, leading to the generation of various debilitating conditions likeneurodegenerative diseases.
Cordis - Community Research and Development Information Service - Mar, 7 Giugno 2011
http://cordis.europa.eu
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A team of German researchers has developed a new type of microscope that could help us better understand skin conditions like melanoma. The team, from the Fraunhofer Institute for Applied Optics and Precision Engineering (IOF) in Jena, Germany, ascertain that the new device can produce high-resolution images of skin areas of any size, unlike conventional microscopes that are restricted to producing images of one small area at a time.
Cordis - Community Research and Development Information Service - Lun, 30 Maggio 2011
http://cordis.europa.eu