In a major advance patients and their families across Europe can now check out on-line the credentials of laboratories offering genetic tests. Over the last two years, EuroGentest, an EU-funded project, has collated in-dept data on the majority of the 1500 + laboratories involved in Member and associated EU States. This data is now freely searcheable as part of the new version of Orpha.net, the leading public portal for rare disease information launched today.
EuroGentest coordinator Professor Jean-Jacques Cassiman commented; “1 in 17 of us will suffer from a genetic disease. As genetic testing increases across the EU, it is essential that patients and their families have upmost confidence in the laboratories performing tests. Since many of the diseases are extremely rare, specialist testing laboratories are often not local and may even be in different countries. Therefore an on-line search tool will, we believe, be a major advance. We are delighted to collaborate with Orpha.net which has rapidly established itself as a trusted and comprehensive source of information throughout Europe.”
Alastair Kent, Director of leading patient interest group GIG, welcomed the launch: “Giving patients and families the opportunity to check out the credentials of labs providing genetic tests is hugely important. Knowing that a lab is listed on a trusted site such as Orpha.net gives confidence in the validity of the results of genetic tests, and means that families are able to make better, more informed decisions”
The search tool lists tests performed laboratory accreditation status, membership of EQA schemes, staff qualifications and research interests. It will be updated on an on-going basis.
Richard Hayhurst | alfa
First use of vasoprotective antibody in cardiogenic shock
17.05.2019 | Deutsches Zentrum für Herz-Kreislauf-Forschung e.V.
A nerve cell serves as a “single” for studies
15.05.2019 | Rheinische Friedrich-Wilhelms-Universität Bonn
Engineers at the University of Tokyo continually pioneer new ways to improve battery technology. Professor Atsuo Yamada and his team recently developed a...
With a quantum coprocessor in the cloud, physicists from Innsbruck, Austria, open the door to the simulation of previously unsolvable problems in chemistry, materials research or high-energy physics. The research groups led by Rainer Blatt and Peter Zoller report in the journal Nature how they simulated particle physics phenomena on 20 quantum bits and how the quantum simulator self-verified the result for the first time.
Many scientists are currently working on investigating how quantum advantage can be exploited on hardware already available today. Three years ago, physicists...
'Quantum technologies' utilise the unique phenomena of quantum superposition and entanglement to encode and process information, with potentially profound benefits to a wide range of information technologies from communications to sensing and computing.
However a major challenge in developing these technologies is that the quantum phenomena are very fragile, and only a handful of physical systems have been...
Working group led by physicist Professor Ulrich Nowak at the University of Konstanz, in collaboration with a team of physicists from Johannes Gutenberg University Mainz, demonstrates how skyrmions can be used for the computer concepts of the future
When it comes to performing a calculation destined to arrive at an exact result, humans are hopelessly inferior to the computer. In other areas, humans are...
Scientists develop a molecular recording tool that enables in vivo lineage tracing of embryonic cells
The beginning of new life starts with a fascinating process: A single cell gives rise to progenitor cells that eventually differentiate into the three germ...
29.04.2019 | Event News
17.04.2019 | Event News
15.04.2019 | Event News
17.05.2019 | Materials Sciences
17.05.2019 | Physics and Astronomy
17.05.2019 | Materials Sciences