Epigenetics is the science that describes all modifications to genes other than changes to the DNA sequence itself. (iStockPhoto)
There are hopes the use of facial recognition technology in a world-first study will lead to more diagnoses of intellectual disabilities in children.
In 2012, it was reported 4 per cent of Australian children aged up to 14 had an intellectual disability.
Clinical geneticist and research fellow at New South Wales’ Hunter New England Health, Dr Tracy Dudding-Byth, is leading the Face Diagnosis Project.
It will see a secure online database developed where photos of children with an undiagnosed intellectual disability from around the world will be uploaded by their parents.
Facial recognition technology will then be used to match children who look similar.
Once a match is established, the DNA of those children will be studied, with the aim of discovering new genes.
Intellectual disabilities common, but diagnoses are still elusive
A genome is the whole set of an organism’s DNA.
In humans, there are approximately 3.3 billion letters of DNA code in the genome.
Technology is available to sequence the entire genome of an individual, but Dr Dudding-Byth said a large amount of the DNA data generated by sequencing was difficult to interpret.
Dr Tracy Dudding-Byth is hoping her research will boost intellectual disability diagnoses. (ABC Newcastle: Robert Virtue)
“Intellectual disability is a very common condition [and is] largely genetic,” she said.
“Although it’s common, it’s actually due to a large number of individually rare genetic conditions, which are incredibly difficult to diagnose.
“There are as many people out there in the community with a rare disease as there are with diabetes; they’re just all different rare diseases.
“With this sequencing technology, [we were able to] test all the 1,500 developmental disorder genes in a single test, so we thought, ‘Wow, we’re going to get a diagnosis’.
“But even with the latest technology, only 30 per cent of these children are getting a diagnosis.
“So most of them still are out there, and we don’t know what’s going on.”
Parents left frustrated by diagnostic barriers
Newcastle mother Justine Harris’s daughter has an undiagnosed intellectual disability.
“Iva is six years old, she can’t walk, she can’t talk, she has really low muscle tone, so she’s very weak; she still can’t crawl,” Ms Harris said.
“Iva is about to go into a wheelchair, she’s in a specialised pram at the moment, she needs a special shower chair to have a shower, she needs help with her feeding and her drinking.”
Ms Harris said she had been left frustrated by not receiving a diagnosis, despite Iva having numerous tests for intellectual disabilities.
“She’s had MRIs, countless blood tests, she’s had a lumbar puncture in her spine to test her spinal fluid, we’ve had mouth swabs, probably a dozen or more [tests].
“We try and test every few years as technology advances a little bit, we hope that we’re a bit closer to an answer, but we’re still not there yet.
“For me especially it’s very frustrating … Sometimes I feel a bit to blame.
“It’d just be nice just to have an answer.”
Facial recognition technology could provide answers
Dr Dudding-Byth had the idea of using facial recognition technology to match photos of children with undiagnosed intellectual disabilities after watching an episode of ABC TV’s science program Catalyst.
She has been leading a small team of researchers over the past two years in establishing the Face Diagnosis Project, and has completed a pilot study.
“It shows that the technology is actually very accurate at matching the faces of unrelated individuals with the same genetic condition,” she said.
Dr Dudding-Byth said the project had two aims: to increase the discovery of new ID genes by matching faces of children with undiagnosed intellectual disabilities, meaning more can be learned about genetic pathways.
Facial recognition software identifies your most unique facial characteristics in what is known as a ‘face print’. (Catalyst)
The second aim is to reduce the time to diagnosis.
“Once we start populating the database, we will also populate it with known diagnoses, so that if people enrol in the project, it’s possible that they might match with someone with a known diagnosis,” Dr Dudding-Byth said.
She said the project was open to any parent around the world, and required a parent’s consent to submit their child’s photo.
“The photos go into a bank-level security database, and then the doctor who’s caring for that patient can also then enter the profile page and add in the extra information,” she said.
“Once that photo has gone into the face-base, it gets matched against every other photo.
“What we need to do is find two individuals, or a cluster of individuals, who [look] the same, so that we can go back then and compare their sequencing data.
“What we’re hoping is that by matching the faces of these children, and then we go back and have a look at their DNA, that we’ll discover new genes.
“When we match them up, it’s very likely that we can go down and look at their DNA and discover a new gene.”
Dr Dudding-Byth has secured a three-year clinical research fellowship with the Hunter Medical Research Institute, but is seeking philanthropic donations to support the next stage of the project and beyond.
The DNA molecule encodes the genetic instructions used in the development of all known living organisms. (Wikimedia)