Speaking on the eve of a conference which will see a record number of achievements presented by the EU-funded five-year project, Cassiman and his expert steering committee stressed their belief that genetic patients across the EU and associated states are already experiencing real and lasting benefits.
According to Professor Cassiman: “1 in 17 of us will suffer from a genetic disease. With the cost of diagnosis and treatment growing rapidly, genetic testing urgently needs to be harmonised across the EU. We in the genetics community – from geneticists to patient groups - realise this need and are united in the belief that Network of Excellence is the ideal vehicle to tackle the situation. Already through the unstinting efforts of our working parties and collaborators we have made major advances in our goal. Advances that are bringing immediate benefits to patients.
“For example we have just launched in conjunction with Orpha.net a database where patients and their families across Europe can now check out on-line the credentials of laboratories offering genetic tests. This is we believe essential since many of the diseases are extremely rare, specialist testing laboratories are often not local and may even be in different countries. In addition, Genetic testing often results in considerable stress to patients and their families and so we have also produced a series of freely available patient information leaflets. Covering the main genetic disorders and the issues involved, they have been in great demand and been translated into nearly all community languages.”
This view is endorsed by Alastair Kent, Director of leading patient interest group GIG,: “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. Equally having access to high quality patient information in your own language is also essential.”
“These are, however, only outwardly visible examples. Behind the scenes, our members have worked tiredlessly and made major progress in encouraging and helping laboratories to adopt recognised quality management and accrediation schemes, as well as developing EQA schemes. Reference material needs have been determined and development projects initiated. We have produced guidelines for counselling, surveys on patient rights and recommendations on patenting. All of this on a minimal and strictly audited budget. Therefore I would challenge critics of the NoE format to attend our workshops and seminars at ESHG and see for themselves the value EuroGentest is delivering in a way no other vehicle could ever hope to achieve,” claims Cassiman.
Richard Hayhurst | alfa
Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | Universität Basel
Researchers develop eco-friendly, 4-in-1 catalyst
25.04.2017 | Brown University
More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.
Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...
Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.
"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...
The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.
Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...
The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...
Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.
Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...
20.04.2017 | Event News
18.04.2017 | Event News
03.04.2017 | Event News
26.04.2017 | Materials Sciences
26.04.2017 | Agricultural and Forestry Science
26.04.2017 | Physics and Astronomy