Duke University has received a two-year, $3 million grant from the Bill & Melinda Gates Foundation to study resistance to HIV infection among people with hemophilia.
The study will be conducted at the Center for Human Genome Variation at Duke’s Institute for Genome Sciences & Policy. The lead investigator is center director, David Goldstein, PhD, who will be joined by Kevin Shianna, PhD, and Jacques Fellay, MD, PhD.
The purpose of the study is to better understand why some individuals are able to seemingly ward off HIV infection despite multiple exposures to the virus, an occurrence known as “host resistance.” The prevailing logic suggests that there are certain variants that contribute to host resistance, such as one’s individual genetic makeup. These variants are found in small populations that have shared unusual circumstances. For instance, the hemophilia population was heavily exposed to HIV through contaminated blood products–approximately half of the overall population and 90% of severe patients – a sizeable enough minority avoided infection to warrant greater scrutiny.
“Interestingly, previous studies have shown that such individuals are 15 times more likely to carry a specific genetic variant linked to resistance (a deletion in the HIV main co-receptor CCR5) than is a person in the general population,” said Goldstein. “That enrichment for a known protective genetic factor tells us that HIV-exposed yet uninfected individuals with hemophilia form an ideal study group.”
The study group comprises 50 people with hemophilia who were exposed to contaimnated factor VIII concentrate from 1979 to 1984 but did not contract HIV. Their genomes will be requenced as investigators try to determine the location of the genetic variants.
While researchers acknowledged these established genetic variants, they also noted the likelihood of other variables. Additional investigation, therefore, needs to be conducted to uncover them. “We think there are probably other, much rarer variants that also play a role. We just haven’t had the right tools to find them, but now we do,” added Goldstein.
Source: Duke Medicine News and Communications, November 24, 2008