Since the onset of the HIV pandemic, many scientists have been baffled on why only a few percentage of people have the ability to resist the dreaded virus even when exposed repeatedly. Now, a group of researchers think that completing the genome sequences of those fortunate few may hold the key in the search for rare genetic variants that can offer significant protection from HIV.
Resistance to HIV is not common and exists only in very few people. It has been traced to the presence of genetic variants linked to the ability to block infection, but scientists think there are other, much rarer genetic variants yet to be discovered.
David Goldstein, director of the Duke University Institute of Genome Sciences and Policy’s Center for Human Genome Variation, and his colleagues are about to sequence the full genomes of 50 HIV-resistant people whose ability to ward of the virus cannot be explained by previously-known protective gene variants.
The group had already complete the first of those genomes at a moderate level of coverage, considered as the first "human disease genome" known to science. They hope they could develop 50 complete human genome sequences over a period of six months, a seemingly impossible task made possible by seven next-generation sequencing machines called Illumina Genome Analyzers.
These analyzers will filter through different genetic variants in search of those with potential functional relevance, assigning each to one of 16 possible categories. For example, one category is allocated to variants that can alter the makeup of a protein, while another group provides a stop in a location that would cause complete loss of protein. The machines can also determine if these variations have been previously discovered or are unique.
Ultimately, the study also attempts to investigate a hypothesis on whether common diseases are caused in large part by rare changes in the genome.
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