By sequencing the genomes of three patients with rare genetic disorders, and comparing them with genetic information from unaffected family members, two studies have managed to narrow down the causes of the diseases.
Between them, the analyses bring the number of individuals who have had their full genomes sequenced from seven to twelve.
A team led by David Galas of the Institute for Systems Biology in Seattle, Wash., sequenced the genomes of a family of four in which the two children had extremely rare genetic disorders--Miller syndrome and primary ciliary dyskinesia1. Miller syndrome causes facial and limb abnormalities, and primary ciliary dyskinesia prevents hair-like structures in the respiratory tract from removing mucus. The results were published online March 10 in Science.
By comparing the genomes of the children with those of the unaffected parents, the team was able to pinpoint the specific recombinations of parental genes that led to the diseases, and eliminate other parts of the genome that previous studies had associated with the disorders. The researchers conclude that just four genes underlie the two diseases.
Read Article Here: Scientific American
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