There was a time when the doctors found it hard to diagnose certain diseases caused by genetic mutation. However, now with the advent of DNA sequencing, it has become possible for the doctors to diagnose those diseases which are hard to be diagnosed.

For the DNA sequencing, the researchers decoded thousands of genes in the past few years. Earlier, the tests had been conducted in the laboratories. But now from the laboratories, the DNA sequencing has reached to the clinics where it would be used over the patients.

One of the notorious diseases, mitochondrial diseases, is said to affect 5,000 people but it is hard to be diagnosed as its symptoms are different from person to person and from genes to genes. However, the common symptoms of the disease may include, blindness, seizures, slow digestion and muscle pain.

At present, it takes the doctors one year to diagnose a patient with mitochondrial diseases. Recently, the researchers of the Murdoch Children’s Research Institute in Sydney and Harvard Medical School sequenced the DBA of 42 children who were thought to be affected by the mitochondria diseases.

It was found that ten of the children had the mutations in genes. Following the findings, the researchers are hopeful that the DNA sequencing could be used for diagnosing mitochondrial diseases.

Calvo, the author of the research, said, “What we’re hoping from this new technology is to be able to replace the current diagnostic journey that involves many specialists and a lot of diagnostic time with a single test, either of the blood or affected tissue”.

The researchers are hopeful that their findings would bring a revolution in the treatment of mitochondrial disease, as hard to diagnose diseases would become easy to diagnose in the future.