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
New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg
Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz
In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport
Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...
The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.
The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...
Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...
Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".
Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...
13.02.2017 | Event News
10.02.2017 | Event News
09.02.2017 | Event News
24.02.2017 | Life Sciences
24.02.2017 | Life Sciences
24.02.2017 | Trade Fair News