Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Gene screen to identify causes of autism

A new screening method can be used to detect the chromosomal abnormalities most commonly associated with autism spectrum disorders.

By screening for genetic defects associated with various kinds of cognitive impairment, the approach described in the open access journal BMC Medical Genomics will help clinicians identify the underlying causes of some patients’ autism spectrum disorders (ASDs).

Joseph Buxbaum from Mount Sinai School of Medicine, New York, led a team of researchers tasked with evaluating the use of ‘multiplex ligation-dependent probe amplification’ (MLPA), a recently developed method of investigating DNA, in genetic counselling. He said, “MLPA is a relatively practical, inexpensive and fast tool for screening chromosome rearrangements in autism spectrum disorders”.

ASDs have been increasingly associated with genetic abnormalities. At the same time, many children with ASDs also have some degree of cognitive impairment. In this study, the authors used MLPA on a group of 279 children with ASD, looking for abnormalities that are known to be associated with cognitive impairment. As Buxbaum describes, “By focussing on well-known genetic disorders, rather than assaying an individual’s entire genome, MLPA allows for much more efficiency”. As additional genetic abnormalities associated with ASDs are identified, additional probes can be used in future screens.

As well as demonstrating the effectiveness of MLPA as a screen for known genetic disorders, the authors also identified some new genetic changes that are likely to contribute to ASD, such as novel duplications (extra copies of genetic material) in chromosomes 15 and 22, which may increase liability and/or exacerbate ASD symptoms.

Although there is no known cure for ASDs, early detection and commencement of special education and behavioural therapy can mitigate some of the negative symptoms.

Graeme Baldwin | 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 >>>