Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Computer-aided diagnosis of rare genetic disorders from family snaps

24.06.2014

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers.

The researchers, funded in part by the Medical Research Council (MRC), have come up with a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood.


This image shows an average face taking on the average facial features of eight rare genetic disorders that have been built from a growing bank of photographs of people diagnosed with different syndromes. Oxford University scientists have developed a computer program to help doctors diagnose rare genetic disorders by recognizing facial structure in photographs.

Credit: Christoffer Nellåker/Oxford University

Using the latest in computer vision and machine learning, the algorithm increasingly learns what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.

The researchers report their findings in the journal eLife. The study was funded by the MRC, the Wellcome Trust, the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC) and the European Research Council (ERC VisRec).

While genetic disorders are each individually rare, collectively these conditions are thought to affect one person in 17. Of these, a third may have symptoms that greatly reduce quality of life. However, most people fail to receive a genetic diagnosis.

'A diagnosis of a rare genetic disorder can be a very important step. It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on,' says lead researcher Dr Christoffer Nellåker of the MRC Functional Genomics Unit at the University of Oxford. 'A diagnosis can also improve estimates of how the disease might progress, or show which symptoms are caused by the genetic disorder and which are caused by other clinical issues that can be treated.'

The team of researchers at the University of Oxford included first author Quentin Ferry, a DPhil research student, and Professor Andrew Zisserman of the Department of Engineering Science, who brought expertise in computer vision and machine learning.

Professor Zisserman says: 'It is great to see such an inventive and beneficial use of modern face representation methods.'

Identifying a suspected developmental disorder tends to require clinical geneticists to come to a conclusion based on facial features, follow up tests and their own expertise. It's thought that 30–40% of rare genetic disorders involve some form of change in the face and skull, possibly because so many genes are involved in development of the face and cranium as a baby grows in the womb.

The researchers set out to teach a computer to carry out some of the same assessments objectively.

They developed a programme that – like Google, Picasa and other photo software – recognises faces in ordinary, everyday photographs. The programme accounts for variations in lighting, image quality, background, pose, facial expression and identity. It builds a description of the face structure by identifying corners of eyes, nose, mouth and other features, and compares this against what it has learnt from other photographs fed into the system.

The algorithm the researchers have developed sees patients sharing the same condition automatically cluster together.

The computer algorithm does better at suggesting a diagnosis for a photo where it has previously seen lots of other photos of people with that syndrome, as it learns more with more data.

Patients also cluster where no documented diagnosis exists, potentially helping in identifying ultra-rare genetic disorders.

'A doctor should in future, anywhere in the world, be able to take a smartphone picture of a patient and run the computer analysis to quickly find out which genetic disorder the person might have,' says Dr Nellåker.

'This objective approach could help narrow the possible diagnoses, make comparisons easier and allow doctors to come to a conclusion with more certainty.'

###

Notes to Editors

The paper 'Diagnostically-relevant facial gestalt information from ordinary photos' by Quentin Ferry and colleagues is to be published in the journal eLife on Tuesday 24 January 2014.

The study was funded by the Medical Research Council, the Wellcome Trust, the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC) and the European Research Council (ERC VisRec).

The Medical Research Council has been at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers' money in some of the best medical research in the world across every area of health. Twenty-nine MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. http://www.mrc.ac.uk

The National Institute for Health Research (NIHR) is funded by the Department of Health to improve the health and wealth of the nation through research. Since its establishment in April 2006, the NIHR has transformed research in the NHS. It has increased the volume of applied health research for the benefit of patients and the public, driven faster translation of basic science discoveries into tangible benefits for patients and the economy, and developed and supported the people who conduct and contribute to applied health research. The NIHR plays a key role in the Government's strategy for economic growth, attracting investment by the life-sciences industries through its world-class infrastructure for health research. Together, the NIHR people, programmes, centres of excellence and systems represent the most integrated health research system in the world. For further information, visit the NIHR website.

Oxford University's Medical Sciences Division is one of the largest biomedical research centres in Europe, with over 2,500 people involved in research and more than 2,800 students. The University is rated the best in the world for medicine, and it is home to the UK's top-ranked medical school.

From the genetic and molecular basis of disease to the latest advances in neuroscience, Oxford is at the forefront of medical research. It has one of the largest clinical trial portfolios in the UK and great expertise in taking discoveries from the lab into the clinic. Partnerships with the local NHS Trusts enable patients to benefit from close links between medical research and healthcare delivery.

A great strength of Oxford medicine is its long-standing network of clinical research units in Asia and Africa, enabling world-leading research on the most pressing global health challenges such as malaria, TB, HIV/AIDS and flu. Oxford is also renowned for its large-scale studies which examine the role of factors such as smoking, alcohol and diet on cancer, heart disease and other conditions.

Press Office | Eurek Alert!

More articles from Health and Medicine:

nachricht Nanotubes are beacons in cancer-imaging technique
23.05.2016 | Rice University

nachricht More light on cancer
20.05.2016 | Lomonosov Moscow State University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: Computational high-throughput screening finds hard magnets containing less rare earth elements

Permanent magnets are very important for technologies of the future like electromobility and renewable energy, and rare earth elements (REE) are necessary for their manufacture. The Fraunhofer Institute for Mechanics of Materials IWM in Freiburg, Germany, has now succeeded in identifying promising approaches and materials for new permanent magnets through use of an in-house simulation process based on high-throughput screening (HTS). The team was able to improve magnetic properties this way and at the same time replaced REE with elements that are less expensive and readily available. The results were published in the online technical journal “Scientific Reports”.

The starting point for IWM researchers Wolfgang Körner, Georg Krugel, and Christian Elsässer was a neodymium-iron-nitrogen compound based on a type of...

Im Focus: Atomic precision: technologies for the next-but-one generation of microchips

In the Beyond EUV project, the Fraunhofer Institutes for Laser Technology ILT in Aachen and for Applied Optics and Precision Engineering IOF in Jena are developing key technologies for the manufacture of a new generation of microchips using EUV radiation at a wavelength of 6.7 nm. The resulting structures are barely thicker than single atoms, and they make it possible to produce extremely integrated circuits for such items as wearables or mind-controlled prosthetic limbs.

In 1965 Gordon Moore formulated the law that came to be named after him, which states that the complexity of integrated circuits doubles every one to two...

Im Focus: Researchers demonstrate size quantization of Dirac fermions in graphene

Characterization of high-quality material reveals important details relevant to next generation nanoelectronic devices

Quantum mechanics is the field of physics governing the behavior of things on atomic scales, where things work very differently from our everyday world.

Im Focus: Graphene: A quantum of current

When current comes in discrete packages: Viennese scientists unravel the quantum properties of the carbon material graphene

In 2010 the Nobel Prize in physics was awarded for the discovery of the exceptional material graphene, which consists of a single layer of carbon atoms...

Im Focus: Transparent - Flexible - Printable: Key technologies for tomorrow’s displays

The trend-forward world of display technology relies on innovative materials and novel approaches to steadily advance the visual experience, for example through higher pixel densities, better contrast, larger formats or user-friendler design. Fraunhofer ISC’s newly developed materials for optics and electronics now broaden the application potential of next generation displays. Learn about lower cost-effective wet-chemical printing procedures and the new materials at the Fraunhofer ISC booth # 1021 in North Hall D during the SID International Symposium on Information Display held from 22 to 27 May 2016 at San Francisco’s Moscone Center.

Economical processing

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Networking 4.0: International Laser Technology Congress AKL’16 Shows New Ways of Cooperations

24.05.2016 | Event News

Challenges of rural labor markets

20.05.2016 | Event News

International expert meeting “Health Business Connect” in France

19.05.2016 | Event News

 
Latest News

LZH shows the potential of the laser for industrial manufacturing at the LASYS 2016

25.05.2016 | Trade Fair News

Great apes communicate cooperatively

25.05.2016 | Life Sciences

Thermo-Optical Measuring method (TOM) could save several million tons of CO2 in coal-fired plants

25.05.2016 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>