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Age : 26
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Dark genome for disease mutation Empty Dark genome for disease mutation

on Sun Sep 10, 2017 12:25 pm
Sometimes, when no cause of patient disease could be found, genomic sequencing techniques are approached to find the reason behind the disease. But most of the times even these results are empty. The reason for this is explained by the term "dark genome". What are dark genomes? Only 2% of the Human genome has been understood, it contains those 20,000 genes that are used in synthesis of cell's proteins. The remaining 98% of region is still a mystery and termed as dark genome. This non-coding region is known to regulate the genes i.e. turn them off and on, the rest of it's function is still unknown. As a result, the sequencing data from whole genome is uninterptable. So, it is suspected that this dark genome region contains reason for majority of diseases. A technique by the name of 'Orion' has been designed to flag regions of non-coding genome that contain disease-causing genetic changes by identifying parts of genome that are under selection in the Human population. This technique will be used by researchers to identify pathogenic mutations in patients to identify the cause of disease. Orion was developed by comparing the entire genomes of 1662 people and identifying stretches of DNA that vary little from person to person. Because these regions are "intolerable" to change, they are most likely doing something important. Hence, mutation in intolerable region is most likely to be the cause of disease then mutation in tolerable region. This was also proved by studies using Orion that more mutations fall in this dark genome region than the readable region. This dark genome is the region that was present in our ancestors and was retained over evolution however, it's effect on readable region has still to be studied.
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