Further investigation of genes' role in human disease urged
Monday 24th January 2011
Those in biomedical science jobs have been urged to test the "functional relevance" of genetic mutations and their impact on human disease.
An investigation designed to better understand the biological relevance of genetic variations to the development of human disease at the Duke University Medical Center revealed that effects can be markedly different in particular cases.
Findings published in the journal Nature Genetics indicate that genetic variations can cause ciliopathies and also interact with disease-causing genes to produce "very different sets of patient problems".
Researchers also found it difficult to establish the significance of the majority of DNA variations studied, in terms of their causal link to the development of human disorders.
Commenting on the finidings, lead researcher Erica Davis explained: "Every patient has his or her own set of genetic variants, and most of these will not be found at sufficient frequency in the general population so that anyone could make a clear medical statement about their case."
Research published earlier this month in the Lancet suggested that two genes may be linked to heart disease.
ADAMTS7 was linked to a build up of plaque in the arteries leading to the heart.
Written by James Puckle
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