Magazine article Science News

Family Genomics Makes Its Debut: Full DNA Studies of Parents and Children Pinpoint Mutations

Magazine article Science News

Family Genomics Makes Its Debut: Full DNA Studies of Parents and Children Pinpoint Mutations

Article excerpt

Genome sequencing has become a family affair. For the first time, two independent teams of researchers have identified genetic changes underlying rare diseases by comparing complete DNA sequences from patients with similar data from their immediate relatives.

The studies, appearing online March 10 in the New England Journal of Medicine and Science, show how powerful family genome sequencing can be for understanding inherited conditions, and how the falling costs of such analyses promise to revolutionize the study, diagnosis and treatment of disease.

"It's great to see rare disease genes being identified by sequence-based approaches," says geneticist Stacey Gabriel of the Broad Institute, a joint research center of MIT and Harvard University. In these early days of using gene sequencing as a discovery tool, she says, "family-based studies are a really interesting place to start."

The authors of the paper in Science sequenced the complete genomes of two parents, a son and a daughter. Both children had a pair of rare genetic diseases--Miller syndrome, characterized by craniofacial abnormalities, and primary ciliary dyskinesia, which affects the respiratory tract. By comparing the parents' genomes with the children's, researchers were able to pinpoint two likely genetic culprits. Knowing exactly which genetic changes trigger a disease could help researchers tailor treatments, for example by prescribing drugs that work on the relevant disease pathway or providing genetic counseling to families. …

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