Tag Archives: Peter Claes

Story about Oxford Uni researcher developing computer facial recognition of rare diseases on ABC radio

I just discovered this story from the Science Show on ABC Radio National from earlier this month about researcher Christoffer Nellåker. It sounds a lot to me like the kind of research that researchers in Perth, Western Australia have been busy with in the Perth Face-Space Project.

I’ve written it before and I’ll write it again; I’m bemused that so much effort and research is continuing to be put into very sophisticated efforts to create systems for recognizing genetic disorders and diseases in facial appearances, involving sophisticated computer algorithms and photography, to do a job that any super-recognizer could be trained to do with I expect little time and effort. In fact I expect that super-recognizers and people with average levels of face recognition ability naturally have unconsciously-used skills at detecting facial dysmorphology. Who couldn’t pick a case of Down’s syndrome in a crowd, regardless of age or gender? And Treacher Collins is hard to miss, and easy enough to name once you know what it is. I get the point that some of the diseases that can be detected in the face are exceedingly rare, and therefore even a medical specialist would have little or nothing in the way of familiarity with the typical appearance linked to the disease, but I would think it is also true that for any medical case a short-list of diseases will be identified during the diagnostic process, and for each of those diseases, regardless of rarity, there should be some kind of photographic record that can be accessed and studied, and compared against the appearance of the patient. Whichever way you look at it, this job needn’t be rocket science, but as is so often the case, people feel more comfortable in placing their faith in the performance computer system than the skill of a person.

Williams, Robyn Identifying rare diseases from facial images. Science Show. Radio National ABC. December 6th 2014. http://www.abc.net.au/radionational/programs/scienceshow/identifying-rare-diseases-from-facial-images/5947924

Saw, Samantha Defining normal. InkWire. April 17, 2014. http://inkwirenews.com.au/2014/04/17/defining-normal/

Oh wow! My idea is being developed by the scientists, and they are scientists in my home town.

I’ve just noticed a story that has been run on the ABC programs 7.30 WA and State to State about researchers in Perth (scientists, doctors and an orthodontist), including some at PMH, who are creating a database of normal children’s faces to create the Perth face-space project, which appears to be a tool in development for the identification of the countless rare (genetic?) diseases which have characteristic facial appearance or facies. This knowledge can be shared globally, so this is Western Australia’s gift to the world. Wow!  We can’t make really good coffee in Perth, but we can do some interesting things here. There is already a research paper by Perth researchers and a Belgian researcher published in which this type of 3D face database method has been researched as a possible tool for monitoring and discriminating a group of rare metabolic diseases in which disease progression alters the facial appearance. I’m very excited to learn about this project because the idea of using face recognition to diagnose or identify rare diseases and rare genetic syndromes is an idea that has been obvious to me for many years, as a super-recognizer who is not only able to memorize faces very well, but is also able to compare and analyse faces with a degree of unconscious skill that is probably above average. I’m sure that most people have an awareness of the significance of facial appearance.

One important consideration needs to be factored into this kind of project – the definite possibility that the characteristic facial features that are being studied can be artificially altered before the patient ever goes near a face scanner or a medical face photographer. Many good parents spend a small fortune with othodontists getting their offspring’s teeth straightened and in doing this they are often erasing one of the signs of a genetic or developmental anomaly. Children can also be the subject of plastic surgery on the face, especially if they were born with a disfiguring facial defect.

One thing that I don’t think is mentioned in this news story is the fact that the studying of faces as an element of medical diagnosis is nothing new at all and does not require any fancy new technology or photographing of patients at all. This new project looks like it will be a great refinement of an idea, but I don’t think it will achieve anything that hasn’t already been done before using human abilities alone. Descriptions of rare diseases and genetic syndromes in medical textbooks or online info sources often feature photographs of patient’s faces that display characteristic features linked with the diseases and conditions. These features can also be described in detailed technical/medical language, much like detailed technical botanical descriptions of the parts of plant species using specialized terms (jargon). Doctors who specialize in genetics or related specialties know what this all means, and they should also have a high to super-recognizer ability to recognize facial phenotypes or at least have the ability to do visual image matching/comparison from the photographs. A specialist doctor with access to photographic resources and good eyes and sound and well-connected intra-cranial face processing hardware should be able to consider the patient’s face properly in a diagnostic process, no online database needed. But this process is labour-intensive, so I can see a use for an online face database.

3D Camera used to detect disease. http://www.abc.net.au/news/2013-04-26/3d-camera-used-to-detect-disease/4654822

Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt, Peter Le Souef, and Gareth Baynam A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders. JIMD Reports. 2013; 8: 31–39. Published online 2012 June 10. doi: 10.1007/8904_2012_152  http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565667/

Saw, Samantha Defining normal. InkWire. April 17, 2014. http://inkwirenews.com.au/2014/04/17/defining-normal/