Tag Archives: Rare Diseases

Another computer algorithm created to perform a face perception task that any person can do without even thinking

Wenz, John This Algorithm Guesses Your Biological Age Just by Scanning Your Face. Popular Mechanics. April 1st 2015.

http://www.popularmechanics.com/science/health/a14874/facial-scans-biological-age/

“For example, if a person appears to be considerably older than they really are, a doctor might look for something to explain that, whether it’s a genetic disorder or a lifestyle issue.”

I do not doubt the link between appearance of facial aging and genetic syndromes or drug addiction as I personally know of some real-life examples of both, and I don’t doubt that a good doctor should look for this in facial appearance and make appropriate investigations, but I do question why any doctor with normal eyesight and face perception would need a computer to do this, and I also question whether under the current “5 minute medicine” model of general practice in Australia, most doctors would have the time or the inclination to enquire about apparent accelerated physical aging in a patient.

I know of quite a long list of things that might accelerate the appearance of aging in the face, including at least one genetic disorder (I know of one family but do not know exactly which disorder), a drug addict lifestyle, smoking (which apparently destroys some vitamin and thus exposes cells to extra stress), and poorly controlled diabetes. There are probably many more things that can have this effect. Ask your doctor.

 

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/