New unified genetic model for human disease `proposed`

Washington: Scientists have proposed a new unified genetic model for human disease.

A team in the US has made the proposal based on a wide variety of genetic studies and analysis -- from genome wide association studies looking for common variations in DNA of many people with complex diseases to sequencing of specific gene mutations which cause disease to whole genome sequencing.

"What emerges is a unified picture whereby previously distinct entities or categories of human diseases, chromosomal syndromes, genomic disorders, Mendelian disease, and multi-factorial or complex traits, can now be considered as part of one continuum.
"... whereby common and rare variants including de novo (new) mutations in the context of environmental influences result in perturbation of the biological balance of a
restricted set of networks activating final common pathways that ultimately cause disease," the scientists wrote in the latest edition of the `Cell` journal.

In other words, all kinds of genetic variation – changes in single genes, deletions or duplications of a large part of chromosomes, rare genetic variants, common variants -- all
play a role in a person`s biologic continuum, health and risk of disease," Prof James Lupski of Baylor College of Medicine, who led the team, said.

"By trying to capture all variation rather than focusing on only one gene, one individual or one tool, you can understand role of genetic variation in disease susceptibility more completely," he added.

What genetic variation you inherited from your mom and dad and what arose in your recent relatives, as well as new mutations that arise in you, might be the most relevant for
disease manifestation; that`s the concept of clan genomics, say the scientists.


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