In a study that shows both its promise and limitations in the clinic, researchers have used genomic sequencing to diagnose the genetic cause of disease in individual children — but succeeded in only a small proportion of them.
A team led by David Thorburn at the Murdoch Childrens Research Institute in Melbourne, Australia, and Vamsi Mootha at Harvard Medical School in Boston, Massachusetts, sequenced DNA from 42 unrelated children with symptoms of inherited disorders of the mitochondria — the cell's energy-producing organelles. The authors sequenced the mitochondrial DNA, as well as the coding regions of more than 1,000 nuclear genes that encode mitochondrial proteins. They found mutations in known or possible disease-causing genes in 23 of the children, and 10 received a firm diagnosis.
In the other cases, the causative gene may fall outside the sequenced regions, or the disease may be caused by weak interactions between several mutated genes, the authors say.
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Sequencing diagnoses disease. Nature 482, 9 (2012). https://doi.org/10.1038/482009b
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DOI: https://doi.org/10.1038/482009b
