Biology blog Chromosomes Disease

Ranking the Importance of Genes to Find Rare Disease-Causing Mutations

A team of scientists has classified genes according to how necessary they are for the survival of an organism, and placed the information in a publicly-available database. It can now aid researchers that are trying to learn more about genetic mutations that cause rare childhood disorders. Finding the gene that is connected to a particular genetic disease has gotten far easier than it used to be thanks to computational tools and improvements in the quality, depth, and speed of genetic techniques. But for very rare mutations, it can still be a challenge.

In work reported in Nature Communications, researchers identified mutations that may be responsible for rare diseases affecting kids; they compared their data to mysterious genetic disorders that were found in the Deciphering Developmental Disorders (DDD) database and 100,000 Genomes Project. To categorize genes, the scientists also compared viability and phenotype data obtained using knockout mice in the International Mouse Phenotyping Consortium and human cell lines from the Broad Institute’s Project Achilles.

“Loss of gene function is often referred to as a binary concept; lethal or viable,” noted Violeta Muñoz-Fuentes, a biologist at EMBL-EBI. “In this study, we show that gene essentiality is more of a spectrum ranging from cellular lethal, developmental lethal, subviable, viable with a visible phenotype, and viable without a visible phenotype.”

The scientists have categorized 3,819 genes in an open-access database so researchers and clinicians can learn from it. The loss-of-function categories are based on what happens to an organism when the gene is lost. They include: genes that are not required for the survival of an organism (viable), genes that cause a reduction in survival when lost (survivable), genes that are necessary for the development of an organism (developmental lethal), and genes that are essential for the viability of cells (cellular lethal).

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1 comment on “Ranking the Importance of Genes to Find Rare Disease-Causing Mutations

  1. Disorder, disorder, disorder…indeed and there quite a lot of them without stepping into intersex. But the way things go, this will be a boon to the billable hours gangs in HealthCare – esp. in the U.S. Just think of the dandy findings Docs and researchers will be able to use to justify all kinds of re-ordering of you infant

    It bodes well for research but not so much for those of us who learned to be viable as a life experience. Tom/Ms.G
    PS: we’ve been absent from these postings due to the death of our dear wife on Jan 23rd.


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