How Will Healthcare Facilities Identify Rare Genetic Diseases?

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How Will Healthcare Facilities Identify Rare Genetic Diseases?

Pharma Tech Outlook | Tuesday, November 24, 2020

The new genomic methods can be used for identifying the rare genetic diseases by detecting the gene’s activity.

FREMONT, CA: The method in which the researchers report in the Science utilizes the fact that people have two copiers or alleles of every gene virtually, one from the mother and the other from the father. The new procedure evaluates the level of activity in the maternal and paternal alleles through the genome. It is done to identify whether there is any abnormal activity among the allele, which can be the cause of disease.

Top 10 Genomics Solution Companies - 2019The researches have also explained their method by utilizing it to expose the disease-causing gene in the patients who suffer from muscular dystrophies. Therefore, this technique can be used for detecting the cause of rare genetic disease where the standard method does not work. The objective of the researchers is to find better and efficient ways through which they can recognize the rare genetic disorders, which arise in the early stage of life. Such diseases can be debilitating or life-threatening. The standard process is used for sequencing genes and the transcripts applied on the affected person, and the family members can discover the cause of the disease. But this method is possible if the disease-driven gene mutations are the ones that are missing or severely lack proteins.

Furthermore, it is difficult for the standard method to effectively detect rare genetic diseases because most of them have subtle causes. For example, a mutation might affect a region of DNA, which itself is not a gene, but it is involved in controlling the activities of other genes. Such dysregulation in the activities of the gene can cause disease.

The method that has been developed by the healthcare researchers utilizes gene transcription data for identifying the difference in the activity level of the paternal and maternal alleles. There are several general diseases that occur due to DNA mutations and affect a single allele of the gene. By comparing the activity of both the allele that shares similar molecular environment in the same cell can be a sensitive technique than comparing one person's gene activity with another.

The method to evaluate the abnormality of the allele's activity consists of a calculation of the gene transcription data which are available publicly. The process is known as ANEVA-DOT (analysis of expression variation -- dosage outlier test. It can be utilized for identifying a handful of genes in induvial who have abnormal activities in one allele.

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