Science, Science and Tech

New methods for diagnosing mystery maladies

Modern medicine is advancing in leaps and bounds. Nearly every month new medications and treatments for previously incurable conditions are discovered and begin research and refinement.


Yet doctors are still often presented with cases which they are unable to even diagnose. However, advances in DNA sequences in the wake of the Human Genome Project now mean clinicians can turn to checking a patient’s genome for clues to their ailments.

Of the three billion or so base pairs which make up the human genome, only one percent codes for the proteins are required to make a person. This tiny slice of DNA is called the exome and in the trial of the technique, two hundred and fifty patients were tested. The full article, which was published in The New England Journal of Medicine details that most of the test subjects were children. Children can be the hardest to diagnose because they’re unable to properly communicate how they feel, something which is often further complicated by their conditions.

However, none tested had a clear diagnosis of their disorders.

The 200,000 base pairs of the exomes of the patients were sequenced and compared to the latest iteration of the human genome sequence, which is in its’ nineteenth version.

Of the two hundred and fifty patients, a quarter were able to be positively diagnosed. Furthermore, thirty patients were found to have conditions that could be treated. Another thirteen patients were also found to have mutated ‘carrier’ genes which may have resulted in genetic defects in their children.

This trial showed how successful gene sequencing can be for diagnosing a patient from looking at just a tiny part of human DNA. Patients were found to have several conditions that stemmed from a single mutation, or ones which were so rare they were the only ones to suffer from it in the whole group. As such technology becomes more common, it can be hoped that more people will be able to receive appropriate treatments.


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September 2021
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