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Orphan Diseases, Collaborative Biology and Sequencing Parasites
Jamais Cascio, 14 Jul 05

trypanosoma.jpgAn international team of researchers from over 20 laboratories worldwide have sequenced the genomes of the parasites leading to some of the worst diseases in the developing world: African sleeping sickness, leishmaniasis and Chagas disease. What they found was startling -- and has given new hope for a cure. It turns out that all three pathogens share about 6,200 genes, giving them far more in common than differing, despite being ostensibly only distantly-related species. This, in turn, opens the door to the possibility of new treatments able to target all three of these illnesses, which have otherwise been essentially ignored by major pharmaceutical companies because the victims are almost all in the poorest countries of the world.

Five different groups (University of Georgia, the National Institutes of Health/National Institute of Allergy and Infectious Diseases, the Institute for Genomic Research, the Seattle Biomedical Research Institute, and the American Association for the Advancement of Science) have released information about the discovery so far today, and each of the press releases provides useful information. In brief, protozoa from the family Trypanosomatidae have been found to share an abundance of genes from both common ancestry and horizontal gene-swapping; in particular, they learned the details of how the parasites manage to evade the human immune system; and they discovered quite a bit about the protein expression resulting from the genes. All of this will make the discovery of vaccines and treatments significantly simpler.

African sleeping sickness, leishmaniasis and Chagas disease are all examples of what are often termed "orphan diseases," because of the overall lack of attention paid to them by major drugmakers (despite afflicting millions of people every year). They are among the subjects of the Tropical Disease Initiative, an effort to develop open source medicines to fight orphan diseases. Although this research was not officially part of the TDI, it used a similarly open process.

According to [Kenneth] Stuart [of SBRI], as the genomes were being sequenced, data was posted on the Internet so that all researchers could have access. The completed sequences and their annotations are posted at www.genedb.org. This information is being reproduced on a two CD set, along with additional information and analytical software, for use by scientists without access to high-speed Internet services. The Wellcome Trust and the World Health Organization funded the CD set.

The three datasets can be found here: Trypanosoma cruzi (Chagas); Trypanosoma brucei (African Sleeping Sickness); and Leishmania major.

Although much of the work was done in the US and Europe, the AAAS is sure to note that the majority of sequencing of "short strand DNA" -- used to identify the genes -- was done in Africa and South America.

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