Medical and Population Genetics

The International HIV Controllers Study

The goal of The International HIV Controllers Study is to help scientists understand why some people are able to control HIV infection without the need to take any medications. These findings could assist in the development of vaccines and new therapies.

Two key projects are currently underway at the Broad Institute:

  1. Perform a genome-wide association study to determine the influence of inherited genetic factors on HIV control (host genetics)
  2. Describe the patterns of viral evolution in situations of HIV control (viral genetics)

Host genetics

Inherited DNA sequence variation plays a critical role in human disease. With detailed knowledge about the patterns of common genetic variation in the human genome (HapMap) and the development of high-throughput genotyping technologies, it has now become possible to read out (to "genotype") up to 1 million single-nucleotide polymorphisms (SNPs) and to comprehensively test these variants for a role in disease.

Genome-wide association studies (GWAS) have revolutionised our understanding of the genetic basis of human diseases. Science Magazine picked this field as Breakthrough of the Year in 2007. These GWAS have resulted in the discovery of DNA sequence variations in scores of genes associated with common diseases, many of which reflect unexpected, novel findings. The Broad Institute contributed to many such studies, including type 2 diabetes, heart disease, Crohn's disease, multiple sclerosis, bipolar disorder, autism with more studies underway.

In the International HIV Controllers Study, we are using the Illumina HumanHap650Y platform to genotype HIV controllers (click here for information about enrolling in the study), and progressors from the AIDS Clinical Trials Group (ACTG).

As of March 2008, we have collected SNP genotype data in about 500 HIV controllers and 800 progressors (from the A5095 cohort). We are currently analyzing these data to find associated variants in genes that may play an important role in HIV control. Given that the genetic effects of associated genes are likely to be modest, there is a continuing need to enroll more HIV controllers as well as progressors to increase the statistical power to detect associations between SNPs and HIV control.

Viral genetics

more to come...

Broad scientists

Host genetics

Paul de Bakker (HMS/BWH)
Noel Burtt
Lauren Gianniny
Sherman Jia (HST)
Chanson Brumme (MGH)
Robert Plenge
Amy Camargo (GAP)
Jamie Moore (GAP)

Viral genetics

Matthew Henn
many more...