New Genomic Method for Diagnosis of Rare Genetic Diseases

A team of scientists has developed a new genomic method to detect the cause of rare genetic diseases. The method, called Analysis of expression Variation-Dosage Outlier Test, and abbreviated as ANEVA-DOT, makes use of gene transcription data to detect differences in the activity levels of maternal and paternal alleles of genes, which people acquire from their parents. It compares activity levels of maternal and paternal alleles across the genome and detects when the activity of an allele goes beyond the normal range to become a viable cause of a certain disease. Usually, many rare genetic diseases develop from DNA mutations that affect only a single allele of a gene. The method uses the calculation of a healthy range of differences in maternal allele and paternal allele activity for every gene from gene transcription data. Thus, it can be used to identify genes with abnormal expression levels in alleles.

Typically, standard methods of sequencing genes and their transcripts are used to detect such disease. However, they are effective only if the disease driving gene mutations are apparent. Half of the rare genetic diseases cannot be detected using standard methods. It can be understood by the fact that a mutation may affect a certain region of DNA that itself is not a gene but is involved in gene regulation and this regulation can lead to the development of the disease.
To demonstrate the method, the researchers applied it to a group of patients with muscular dystrophy-type genetic diseases. It successfully detected the disease-linked genes in those cases which were previously diagnosed and showed an unexpected major imbalance in allele activity. the method detected disease-linked muscle-related genes in many undiagnosed cases. In one case, a suspect gene uncovered by the ANEVA-DOT method was confirmed as the gene responsible for the diseased condition.

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