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Patient genes unravelled

Thursday March 11th, 2010

Doctors and scientists have reported the first successes in conducting individual genetic studies of patients with rare diseases.

The work is a step towards the science fiction world where doctors can tailor treatments for individual patients using clinic-based laboratories.

The future of medicine: A medical student in Aberdeen, Scotland, tries out new 3D versions of medical scansOne project from Texas, USA, was reported in the New England Journal of Medicine while a second success in Luxembourg was reported by the journal Science.

In both cases scientists set out to unravel the entire genome of individuals.

Doctors at the Baylor College of Medicine, Houston, Texas, studied a patient with a disease called Charcot-Marie-Tooth along with members of his families. They found the patient and three families members had mutations in a gene suspected of being linked to the disorder.

In Luxemburg and in Seattle, Washington, USA, doctors studied a man, a women and their two children, who suffer from a condition called Miller syndrome, which affects the skull, and a lung disease called ciliary dyskinesia.

Writing for Science, they say they have been able to find four genes that may be linked to Miller syndrome.

The study led to new insights about how parental genes are transferred to children. The rate of mutations was half that expected, the researchers said.

Researcher Dr David Galas, of the Institute for Systems Biology, Seattle, said: "Comparing the sequences of unrelated individuals is useful, but for a family the results are more accurate.

"We can now see all the genetic variations, including rare ones, and can construct the inheritance of every piece of the chromosomes, which is critical to understanding the traits important to health and disease."

The scientists say that the falling cost of genetic research will continue to make studies of individuals possible.

Writing in the New England Journal of Medicine, Dr Richard Lifton, of Yale University, Connecticut, USA, says the studies "provide a glimpse of the future for which we need to prepare."

Science Express March 10 2010; New England Journal of Medicine, March 10, 2010

Tags: Child Health | Europe | Genetics | North America

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