Genome reading offers the key to diagnosis and drugs

UCC researchers are finding ways to read our genomes in just an hour, which means rapid diagnosis of disease and drug-based therapies…

UCC researchers are finding ways to read our genomes in just an hour, which means rapid diagnosis of disease and drug-based therapies, writes Claire O'Connell

Tiny variations in our genetic make-up can determine whether we enjoy good health, live with a chronic condition or even how a particular medicine might affect us. Researchers in Cork are now developing affordable, table-top technology that will allow doctors to provide personalised medicine by genetically analysing blood samples on the spot.

Changes in the individual "letters" along our DNA code are called single-nucleotide polymorphisms (SNPs), and they are the target of a new, chip-based sensor system being developed by Tyndall National Institute at University College Cork.

The snappily-titled SNiP2CHIP aims to be a one-stop analysis system that will identify specified SNPs in a blood sample within an hour, according to Dr Paul Galvin, who leads the nanobiotechnology team at Tyndall Institute.

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"The idea is that while you are in the waiting room the analysis would be done, so the result would be ready by the time you leave the doctor and a prescription based on your genetic profile could be given to you," he says.

The secret to making an affordable, small and sensitive detection system is using magnetic sensors. "We use the same sensors that are used in the hard disk of a computer," explains Galvin. "So this kind of technology is highly compatible with developing cheap, disposable devices that are small and integrated."

The SNiP2CHIP approach sticks specific strands of DNA or "probes" onto an array of magnetic sensors on a chip. These probes are designed to complement specific stretches of the genetic code, including those with letter changes, or SNPs.

Next the sample DNA is extracted from the blood and coated onto magnetic beads and washed over the chip. If a sequence of DNA in the sample matches up with a probe, the two stretches of DNA stick together like velcro and the bead carrying the sample becomes immobilised on the chip.

From there it's easy to detect where immobilised beads are and identify which probes have had a "hit".

The Tyndall scientists are currently working with researchers in the National Centre for Medical Genetics, as well as teams in Portugal, Estonia, France and the Czech Republic, to develop a prototype SNiP2CHIP system that proves the accuracy of the magnetic approach.

They are basing the DNA probes on SNPs involved in cystic fibrosis, a well characterised inherited condition, and they hope to have a prototype working model in 18 months.

This EU-funded project will work on detecting about 25 SNPs per chip, says Galvin, but ultimately a single chip could potentially analyse thousands of SNPs for a range of conditions.

The Tyndall researchers also aim to make the SNiP2CHIP system extremely user-friendly. "It could be used at home," says Galvin. "But the real target is point-of-care for personalised medicine, perhaps in a GP's surgery - you apply a sample of blood at one end and look at the result at the other end."