New technique enables faster genetic diagnosis for hereditary diseases
VIB researchers connected to the University of Antwerp have developed a new method that enables them to track down the cause of hereditary diseases more quickly and efficiently.
By means of this technique, genetic tests that take a long time today - such as screening for hereditary forms of breast cancer - can be carried out much more rapidly. This finding creates new perspectives for tests that are currently expensive and difficult to perform.
Genetic screening today
Genetic screening is currently performed when, for example, several persons in a family contract the same disease. A member of the family may wonder whether it is in fact an hereditary disease, and, if so, whether he or she is a carrier and runs the risk of getting the disease or of transmitting it to his or her children. Following genetic advice, screening can be performed: whereby scientists investigate whether there is indeed a defect in the DNA of the patients in the family (provided they cooperate in the testing) or of the family member who is inquiring. On the basis of this screening, medical practitioners can provide advice regarding prevention or regarding prenatal diagnosis when the person desires to have children.
If the gene that can cause the disease is very large, or if there are several genes that can possibly lead to the disease, diagnostic centers must conduct a lot of labor-intensive studies. This results in long waiting times, with the consequences that the person inquiring remains in a state of uncertainty for a longer time, that any preventive treatment is delayed, that a desire to have children is postponed, or that children are born with a defective gene.
A new technology
Now, VIB researchers Dirk Goossens and his colleagues in Jurgen Del-Favero’s research group have developed a new method, with which several pieces of DNA can be examined simultaneously, instead of one after the other. They have succeeded in joining together two powerful existing techniques - multiplex PCR and massive parallel sequencing - making it possible to screen all of a person’s relevant hereditary matter at one time. Use of this parallel technology offers an affordable solution for molecular diagnostics of a large number of (sometimes commonly occurring) disorders.
A much quicker diagnosis
With this new technology, the molecular diagnosis of genetic diseases - such as breast cancer, cystic fibrosis, and hereditary deafness - will be carried out much faster and more cost-effectively. It takes 3 to 6 months to receive a result with the techniques that are currently in use. By comparison, the new method produces a result within only a few weeks. Moreover, not only are these tests run much more quickly, they are also very sensitive and provide a more detailed result.
Sooike Stoops | alfa
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.
Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...
Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.
Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...
Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.
As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...
Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.
With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...
Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine
Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...