Genome sequencing turns to another target: patients with genetic diseases
Nearly a dozen genomes of people of all shapes and sizes have been decoded, but until now, they've all had one thing in common: they were healthy.
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.
In the second, Leroy Hood and David Galas of Seattle's Institute for Systems Biology decoded the genomes of two children (and their parents) who carry two rare genetic diseases.
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.
What the researchers discovered is that, in a surprising twist, the mutations that cause common diseases are not themselves common.
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.
The teams' work was published in the New England Journal of Medicine and the journal Science, respectively.
Related coverage on SmartPlanet:
- A genetic test for dieters
- The amazing race for the cheapest and fastest DNA machine
- 8 percent of human genome derived from viruses could cause psychiatric disorders, scientists say
- Secrets of the HIV genome revealed
- Genetics 101 for the masses
- Will your genetic source code be open or closed?
- The $50,000 genetic map
- Scientists: Ethnicity may not exist, genetically speaking
- Scientists identify potential genetic factor for male infertility
- Is monogamy genetic? Your fingers may hold a clue
- IBM targets 'DNA Transistor'; personal genetic testing for $100
- California to launch genetic health database for 100,000 people
- Genetic tests buttress regular cancer screening
This post was originally published on Smartplanet.com