'Lab on a chip' brings fast DNA screening: Engineer has developed a simple means to test genes and help combat disease
(Guardian (UK) Via Acquire Media NewsEdge) There was a time when the closest that Christofer Toumazou thought he would get to the hallowed halls of Imperial College, in London, was when he was walking down Exhibition Road on the way to the Science Museum with the workshops of the esteemed institution visible on his right.
But at the age of 23, and without an O level or A level, let alone an Oxbridge degree on his CV, the young engineer was accepted for a postdoctoral position at the university, beginning a career that would lead to him create an artificial pancreas for people with diabetes, a wireless heart monitor, and a combined digital and analogue mobile phone, among other inventions.
It is his latest creation, however, that has prompted the most interest and which in June earned him a European inventor award.
His development, which uses a small silicon microchip in a USB, a "lab on a chip" as it has been coined, has allowed DNA data to be analysed within minutes and outside a laboratory. This new technology is aimed at identifying a predisposition for hereditary diseases such as diabetes, and at prescriptions that have the exact dosage for medication, cutting down on the cost of DNA testing machines.
"My dream was to have a handheld consumer device with . . . a little USB stick that could look at rapidly screening for genetic mutations of particular diseases, whether it is a predisposition to type two diabetes [or] whether a type of breast cancer," said Toumazou, in his office at the Institute of Biomedical Engineering at Imperial College.
The new DNA analysis method is the latest instalment in a far from traditional career path for the Greek-Cypriot. Having left school in Cheltenham at 16 with a "few CSEs", the most typical route for him to have followed would have been in the family catering business. But he became inspired by an aunt's engineer husband and developed an interest in electrical engineering.
Encouraged to do a one-year radio and electronics certificate - when the "whole Greek Cypriot contingent of Cheltenham turned up" on his first day - he found the environment in which he wanted to thrive. He did a two-year general engineering course, a degree at Oxford's polytechnic, and later a PhD. By the age of 23 he had applied for a postdoctoral position at Imperial College and was offered it the same day.
The position involved working with industry to reduce the size of satellite phones at a time when his interest was in analogue - speech, sound and vision - electronics.
Thaksin Shinawatra, the former prime minister of Thailand, who at the time ran a mobile phone operator, asked him in the 1990s to make a combined digital and analogue mobile phone; that project led to the establishment of Toumaz Technology, a commercial spin-off.
Toumaz's next inspiration came in combining biological and electronic elements, working on cochlear implants, research that directed him towards healthcare. "I was very keen on bringing medical grade technology to the consumer," he said.
Later came the Sensium, a processor termed a "digital plaster" that could monitor vital health signs, the heart rate, respiration and temperature, of patients, then send that data to a nurses' station, cutting down on intervals between observations and aiding prioritisation of patients in hospital accident and emergency departments.
At around the same time, his son Marcus had renal failure at the age of nine. "For the first time I was on the receiving side of what medical technology was like, rather than being in a plush environment trying to develop all these super-duper widgets and gadgets and it really, really, frightened me," he said.
This experience led him to focus on technology that could detect hereditary diseases like that suffered by his son. While advancements in technology might not be able to prevent such a disease, it might help better manage the condition, he said. Describing his DNA analysis system as his "simplest invention but most significant", Toumazou said he focused on the fact that humans differed from other humans by 0.1%. That difference, he said, showed whether people could metabolise certain drugs properly and whether there were genetic conditions present that differed in any way.
His invention uses small silicon microchips which can identify genetic differences which dictate a person's inclination to hereditary diseases such as diabetes and how they will react to a drug like warfarin, which is used to treat blood clots. To use the "lab on a chip" system, a sample of saliva or a swab from inside the mouth is taken and put inside a container with the chip inside. The chip is then put inside a USB stick and plugged into a computer. The DNA results are returned within about 30 minutes, Toumaz said.
One of the main benefits is the speed of the information path, he said. In situations where a drug is needed to counter a hospital-based infection, the new technology can help determine which drug is needed in a short space of time cutting out the waiting and potential risk of fatality, he added.
The cost savings, compared with conventional DNA-sequencing machines, open up the possibility for using the technology in areas such as sub-Saharan Africa where clinics can be poorly equipped.
DNA Electronics, the company set up by Toumazou which develops the technology, licenses its patents to other companies, including Roche, Life Technologies, and the National Institute for Health Research of the NHS.
The technology has also been licensed to Geneu, a cosmetics firm with an office in New Bond Street, London, where bespoke products billed as anti-ageing are created based on DNA testing.
Toumazou said "real science" would achieve recognition in that industry where so much "placebo science" existed. "If it gets recognised it will help with my big picture of getting consumer acceptance. It takes the stigma away from it being a medial device - and then I can go back to the big picture."
Chris Toumazou won a European inventor award for his handheld DNA and disease tester Photograph: epo.org
(c) 2014 Guardian Newspapers Limited.
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