Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Gene chip technology will lead to quick and accurate genetic testing for cystic fibrosis


A single genetic test that is capable of detecting all mutations involved in the development of cystic fibrosis could be just a few years away, the 20th annual conference of the European Society of Human Reproduction and Embryology heard today (Monday 28 June).

Researchers at Monash University in Melbourne, Australia, have discovered that recently developed microarray (or “gene chip”) technology* can be used successfully to detect one of the commonest cystic fibrosis (CF) genetic mutations with 100% accuracy.

This means that, once the technology has been refined, gene chips could be used to detect all CF mutations in a single, quick and easy test that would produce almost immediate results. The analysis could be carried out on embryos during preimplantation genetic diagnosis (PGD), so that only healthy embryos would be transferred to the woman. The technology could be used during PGD for other genetic diseases too.

Ms Chelsea Salvado, a PhD student working with Professor Alan Trounson and Dr David Cram at the Institute of Reproduction and Development at Monash, explained: “Currently there are many CF mutations diagnosed in the PGD laboratory, each requiring the development of a different diagnostic technique. However, the introduction of microarray technology would provide a uniform, single test, enabling PGD to be offered to couples presenting with different mutations without first having to undergo an extensive pre-clinical work-up. At present, this work-up can take anywhere between a week and six months to complete, depending on how easy it is to match the parental mutations with the markers used to prevent misdiagnosis.”

Until now, the possibilities of using microarray technology in PGD had been largely unexplored. Ms Salvado set out to discover the diagnostic potential of gene chips by testing them on the ∆F508 mutation, which is the commonest CF mutation, accounting for 80% of all CF mutations worldwide.

She created gene chips that held information on the normal and diseased versions of ∆F508 and then tested them on DNA samples obtained from single cells and from groups of ten cells. Despite some initial problems with amplifying the samples successfully, meaning that an extra step had to be added to the process, the final results showed that the gene chips could diagnose the ∆F508 mutation with 100% accuracy in the 30 samples investigated.

“This proved the concept that the ∆F508 mutation can be reliably and accurately diagnosed at the single cell level using microarray technology,” said Ms Salvado. “Further research is needed to improve the method, although many of the problems associated with the amplification of single cells would be reduced or eliminated if blastocyst biopsy (biopsy of 10 cells) was the method of choice in PGD.”

There are over 1,000 mutations known to cause CF and their frequency varies between countries and communities. “For example, in Australia 10 mutations are diagnosed routinely, all of which involve a mutation at a single point on the cystic fibrosis gene. Current work within our laboratory has shown that these point mutations may be detected with as much reliability and accuracy as the ?F508 mutation,” said Ms Salvado.

It will be at least two to three years before this discovery starts to benefit patients. She said: “This research needs to be enhanced by commercial microarray companies who have the capacity and the resources to develop more complex arrays with many different CF mutations. Further development of the method is critical to ensuring reliable microarray-based genetic diagnosis.”

However, Ms Salvado believes that her research will have a significant impact in the future on couples carrying CF mutations. “Microarray technology will lead to semi-automated genetic testing for both PGD and prenatal diagnosis, providing a rapid diagnosis, thus reducing the stress of couples waiting for a result. The introduction of microarray technology could lead to PGD being offered for all genetic diseases in the future.”

Emma Mason | alfa
Further information:

More articles from Life Sciences:

nachricht Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München

nachricht Second research flight into zero gravity
21.10.2016 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>