Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today. Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders.
'The richness of genetic variation that affects the regulation of most of our genes surprised us,' says study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University. 'It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes.' The biological discovery was enabled by a staggering amount of RNA data from multiple human populations. 'We have set new standards for production, analysis and dissemination of large RNA-sequencing datasets,' adds Peter 't Hoen from Leiden University Medical Center, who coordinated technical analysis of the data.
'Understanding the cellular effects of disease-predisposing variants helps us understand causal mechanisms of disease,' professor Dermitzakis points out. 'This is essential for developing treatments in the future.'A rich data resource for genetics community
The GEUVADIS (Genetic European Variation in health and Disease) project, funded by the European Commission's FP7 programme, is led by Professor Xavier Estivill of the Center of Genomic Regulation (CRG) in Barcelona. 'We have created a valuable resource for the international human genomics community' says Dr. Estivill. 'We want other scientists to use our data, too.'
Emmanouil Dermitzakis | EurekAlert!
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Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.
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In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
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