Navigation Links
Computer-aided diagnosis of rare genetic disorders from family snaps
Date:6/23/2014

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.

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 Nellker 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 3040% 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 Nellker.

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


'/>"/>

Contact: Press Office
news.office@admin.ox.ac.uk
44-186-528-0530
University of Oxford
Source:Eurekalert  

Related biology news :

1. Test to improve peanut allergy diagnosis
2. Tiny electrical sensors could signal faster MRSA diagnosis
3. Researchers identify genes that may help in ovarian cancer diagnosis and prognosis
4. Promising developments in early diagnosis and treatment of mesothelioma
5. A new diagnosis for Frida Kahlos infertility
6. Sequencing works in clinical setting to help -- finally -- get a diagnosis
7. Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease
8. Obesity is major contributor to heart disease, impediment to diagnosis and treatment
9. Plants provide accurate low-cost alternative for diagnosis of West Nile Virus
10. Privately owned genetic databases may hinder diagnosis and bar the way to the arrival of personalized medicine
11. Detection, analysis of cell dust may allow diagnosis, monitoring of brain cancer
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Computer-aided diagnosis of rare genetic disorders from family snaps
(Date:6/14/2017)... , June 15, 2017  IBM (NYSE: IBM ) ... international tech event dedicated to developing collaboration between startups and ... on June 15-17. During the event, nine startups will showcase ... value in various industries. France ... the international market, with a 30 percent increase in the ...
(Date:5/16/2017)... , May 16, 2017  Veratad Technologies, LLC ( ... online age and identity verification solutions, announced today they ... Conference 2017, May 15 thru May 17, 2017, in ... and International Trade Center. Identity impacts ... and in today,s quickly evolving digital world, defining identity ...
(Date:5/6/2017)... RAM Group , Singaporean based ... in biometric authentication based on a novel  ... to perform biometric authentication. These new sensors are based on ... Ram Group and its partners. This sensor will have ... and security. Ram Group is a next generation ...
Breaking Biology News(10 mins):
(Date:8/16/2017)... ... 16, 2017 , ... We are proud to announce the ... our Dilworth, MN site. The inspection took place Monday, July 31st through Friday, ... of a routine Bioresearch Monitoring Program (BIMO) with the USFDA wherein multiple Dermatology ...
(Date:8/15/2017)... (PRWEB) , ... August 15, 2017 , ... Kapstone ... celebrating 10 years of successes helping medical technology companies and inventors develop and safeguard ... a renowned full-service national engineering firm with a portfolio of clients in the United ...
(Date:8/15/2017)... , ... August 15, 2017 , ... ... family of 6” modular downlights designed to stay tightly sealed and perform efficiently ... where damp and wet location listings just aren't enough, such as: hospitals; behavioral ...
(Date:8/14/2017)... ... August 14, 2017 , ... Every year, ... researchers in the antibody community have recently come together to address this antibody ... the laboratory. , The team at Thermo Fisher Scientific ...
Breaking Biology Technology: