Monday, May 23, 2022
1New test means quicker diagnosis for patients

New test means quicker diagnosis for patients

By Cara Sulieman

SCIENTISTS at a Scottish university have developed a quick, cheap way of testing for inherited diseases that could mean an earlier diagnosis for patients.

The team, based at the University of Edinburgh, have cut testing times down to around half an hour, and are hoping to develop the product for commercial release in the next six months.

Using just a drop of saliva, the technique uses chemical analysis to pinpoint variations in a patient’s DNA coding.

Cutting out the expensive enzymes usually used in such tests, the researchers are confident they can cut the cost to less than £637, significantly less than it can cost currently.

“Hard to diagnose”

Dr Juan Diaz-Mochon, at the university’s School of Chemistry, said that the technology could be used to establish if the patient has any disease where there a known link to genetic mutation.

He said: “We have been using Cystic Fibrosis in the study as it is a well recognised strain of mutation that causes the disease.

“But the link between mutation and more and more diseases is being established.

“For example, there is already a link established between certain mutations and Bipolar Disorder, which is very hard to diagnose.

“We hope to develop kits that could be given to doctors that could help make this detection easier, quicker, and cheaper.

“A great scientific discovery that would allow patients to have the right treatment from day one.

“All this beautiful science is another tool to make that possible.”


The results of the study – funded by Scottish Enterprise – were recently published in scientific journal Angewandte Chemie.

With the funding for the study ending in July, Dr Diaz-Mochon and his team are hoping to get the tests ready for the commercial market before then.

Dr Diaz-Mochon said: “This idea is wonderful from a scientific point of view but now we have to make it a commercial success.

“What we are doing now in the next five months is getting a product ready to market.”

Professor Mark Bradley who also took part in the study, added: “We plan to test the technology further, extend our collaborations with leading researchers and companies in the DNA sequencing field and establish our first commercial operations within the next six months.”

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