Clinical geneticists use these face shape differences as important clues in the early stages of diagnosis prior to detailed clinical examination and genetic testing. These facial differences are often hard to detect, especially for less experienced doctors, but now non-invasive 3D photography and novel analysis techniques are set to make the facial recognition easier.
Professor Peter Hammond from the UCL Institute of Child Health has developed new computer software that compares the faces of undiagnosed children with those with a diagnosed condition that also affects the development of their face, with a 90 per cent success rate. He will describe his work at the BA Festival of Science in York on Monday.
The technique is an important addition to the diagnostic toolbag as some conditions are so rare that a clinician might only see a handful of cases over a career and so may not recognise the characteristic facial features, especially if the child being examined is much younger than previous cases or from a different ethnic background.
Professor Hammond says: ‘Delay in diagnosis causes anxiety to parents who need advice on risks to future children. Moreover, delay may defer important medical treatment or behavioural training that could improve the prognosis for affected children.’
The specially written software is based on dense surface modelling techniques developed at UCL and compares the child’s face to groups of individuals with known conditions and selects which syndromes look most similar. In order to do this, extensive collections of 3D face images of children and adults with the same genetic condition had to be gathered, as well as controls or individuals with no known genetic condition. Each image contains 25,000 or so points on a face surface capturing even the most subtle contours in 3D. The images are then converted to a compact form that requires only a 100 or so numeric values to represent each face in the subsequent analysis.
Once the software has narrowed down conditions with similar facial features, molecular testing can then be used to confirm the diagnosis. Testing for fewer conditions will save money, time and reduce the amount of stress the child and the parents are put under.
So far the technique has proved fruitful, Professor Hammond says: ‘The technique is currently being applied to over 30 conditions with an underlying genetic abnormality. The discriminatory capability of the approach has proven highly accurate in identifying the characteristic facial features of a variety of genetic conditions, including Cornelia de Lange, Fragile X, Noonan, Smith-Magenis and Velocardiofacial syndromes. It has identified unusual facial asymmetry in children with autism spectrum disorder reflecting known brain asymmetry and has helped to identify genes affecting facial development in Williams syndrome.’
Professor Peter Hammond will give his talk, ‘Your face, your image, your genes’ as part of the session entitled ‘Facing up to genetics’ on 10 September at Physics PX/001, University of York as part of the BA Festival of Science.
The BA Festival of Science will be in York from 9-15 September, bringing over 350 of the UK’s top scientists and engineers to discuss the latest developments in science with the public. In addition to talks and debates at the University of York, there will be a host of events throughout the city.
For further information about the BA Festival of Science, including an online programme, visit www.the-ba.net/festivalofscience.
This year’s BA Festival of Science is organised by the BA (British Association for the Advancement of Science) in partnership with the University of York, Science City York and the City of York Council. It is supported by the Department for Innovation, Universities and Skills (DIUS), BP and Yorkshire Forward.
Professor Hammond would like to acknowledge support from the family support groups for these genetic conditions and significant funding from the charity NewLife in the UK and the National Institutes of Health in the USA.
Lisa Hendry | alfa
How brains surrender to sleep
23.06.2017 | IMP - Forschungsinstitut für Molekulare Pathologie GmbH
A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)
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)...
19.06.2017 | Event News
13.06.2017 | Event News
13.06.2017 | Event News
23.06.2017 | Physics and Astronomy
23.06.2017 | Physics and Astronomy
23.06.2017 | Information Technology