DNA Test Reveals the Mysterious Illness Suffered by Teenagers Australia

in health •  7 years ago  (edited)


Not all diseases can be easily detected and diagnosed easily. There are some diseases that remain confusing and may be misdiagnosed.

However, sequencing technology or DNA sequencing, the technique of determining the nucleotide sequence in DNA molecules, will help health care providers to provide correct diagnosis and treatment.

What happened to the 17-year-old Australian girl, Teresa, is one such example. Over the last few years, he suddenly experienced a seizure.

The doctor who first handled him said that Teresa had a mild spasm because it was psychologically influenced.

Unsatisfied with his diagnosis, Teresa moves a doctor to meet a professor who calls Teresa has damage to the collagen gene. This is known after DNA sequencing tests.

The doctor later revealed that Teresa's mysterious illness was Professor Sam Berkovic of the Genome Epilepsy Clinic at Austin Hospital, Melbourne.

When Teresa came, Berkovic suspected that this young woman did have epilepsy caused by genetic factors. One of them is the history of Teresa's family health that has average cataracts at a young age.

To prove it, Berkovic did a DNA sequencing test. "We consider the family genes associated with connective tissue that connect all tissues in the body,"

The blood sample of Teresa was taken and the DNA sequencing test was performed. He sequenced all of Teresa's genes to look at the various genetic regions until they discovered the cause of his mysterious illness.

The results show that there is a genetic change of collagen in Teresa's body that triggers epilepsy. "It also makes her family have a history of cataracts.

DNA sequences provide basic information about genes or genomes as they contain the clues necessary for the formation of living organisms.

After Teresa was given a small dosage of epilepsy, her stiffness stopped. He can also move normally.

Mysterious disease is solved by DNA sequencing

Health experts say DNA sequencing technology can help many patients like Teresa to know undiagnosed genetic conditions.

Professor Berkovic says that from the research that has been done showing 25 to 50 percent of patients who have a mysterious illness can be solved by DNA sequencing.

"Until now, we can only study a small number of genes in each individual for the reason of cost.The whole genome sequence will see all the genes in one motion.

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