Hunting Disease Origins with Whole-Genome Sequencing
As sequencing becomes more affordable, the way forward for diagnosis is not DNA snippets, but full genome workups Despite coming from a range of different backgrounds, everyone whose genome has been fully sequenced has had one thing in common: they were all healthy. But now, two teams have decoded the first genomes of people who carry genetic diseases, with one group also performing the first-ever full sequencing of an entire nuclear family. By decoding the entire genome, rather than just snippets linked to a particular disease, the two research groups were able to identify the genetic roots of particular disorders more precisely than ever before, paving the way for a radical improvement in the usefulness of genetic diagnosis. Working independently, the different research teams, one based out of the Baylor College of Medicine in Houston, Texas, and the other working from both the University of Washington and the University of Utah both came to the same conclusions. First, they realized that genetic diseases
Hunting Disease Origins with Whole-Genome Sequencing
Two studies show that complete-genome sequencing can identify disease-causing genes. James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, ...
Thu 11 Mar 10 from MIT Technology Review
The future of medicine has arrived
Doctors hailed a landmark in the advance of personalised medicine yesterday with the first case in which the sequencing of a patient's complete genome revealed the genetic cause of his disease.
Wed 10 Mar 10 from The Independent
Finding Charcot-Marie-Tooth gene ends a quest and begins new era of personalized genomic medicine
Baylor College of Medicine's Dr. James Lupski came to the end of a personal quest earlier this year when the Baylor Human Genome Sequencing Center sequenced his complete genome and identified ...
Wed 10 Mar 10 from PhysOrg
Finding Charcot-Marie-Tooth gene ends a quest and begins new era of personalized genomic medicine, Thu 11 Mar 10 from ScienceDaily
First-Ever Full Sequencing of Unhealthy Genomes Illuminates Disease Roots
As sequencing becomes more affordable, the way forward for diagnosis is not DNA snippets, but full genome workups Despite coming from a range of different backgrounds, everyone whose genome ...
Thu 11 Mar 10 from Popular Science
"Personal" study shows gene maps can spot disease
WASHINGTON (Reuters) - Two studies published on Wednesday show it is possible to sequence the entire gene maps of families with inherited diseases and pinpoint the offending bit of DNA.
Thu 11 Mar 10 from Reuters
"Personal" study shows gene maps can spot disease, Wed 10 Mar 10 from Reuters
Whole genome sequencing diagnosis achieved
HOUSTON, March 11 (UPI) -- U.S. researchers say they have, for the first time, used whole genome sequencing to achieve a molecular diagnosis in a person with a genetic disorder.
Thu 11 Mar 10 from UPI
A scientist tracks the genetic origins of his own disease
In the introduction to his excellent book The Language of Life, which is published in the UK today (March 11), the genomics pioneer Francis Collins describes the family medical history of a ...
Wed 10 Mar 10 from Times Online - Science Central
Genome find pushes personalized medicine ahead
In a scientific coup that could mean leaps for personalized medicine, two Baylor College of Medicine scientists have sequenced an individual's genome and identified the specific causative ...
Fri 12 Mar 10 from Healthcare IT News
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