Now, two independent research teams have completely sequenced the genomes of people who suffer from genetic disease.
In the first, Baylor College of Medicine’s Richard Gibbs sequenced the entire genome of his colleague James Lupski, a medical geneticist who carries the genes for Charcot-Marie-Tooth disease, a nerve disorder.
All three diseases are caused by single, rare mutations in a gene. More common diseases such as cancer are thought to be caused by mutations in several genes.
That goes entirely against the approach scientists have taken toward genetic diseases until now.
Instead, their findings suggest that fully sequencing genomes may instead help researchers explore the roots of common, multi-gene diseases — and in the case of the family genomes that were sequenced, improving the accuracy of the decoding process.
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