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Identifying Disease-Associated Genes within a Diverse Population

Linda Seaton
| Jan 23, 2014

Humans are a rather cosmopolitan species. The travels of our ancestors as they moved from city to city, country to country, and from one continent to another have enhanced the genetic diversity of our genomes.

Nowhere is this diversity more evident than in the U.S. Hispanic population. The second largest group in the U.S. after those of European origin, the Hispanic population is a rich admixture of European, Native American, and African genes. This heterogeneity has yet to be mapped extensively, with Hispanics underrepresented in high-profile genome-wide association studies (GWAS). Hispanic samples weren’t even included in the original HapMap project, conducted to identify common patterns of human genetic variation.

The lack of transparency into the Hispanic genome makes it difficult to develop personalized therapeutic strategies for members of this group. Thankfully, a Hispanic Genotyping Array project funded by the National Heart, Lung, and Blood Institute (NHLBI) is underway at Illumina to identify disease-linked genes in the Hispanic population. Illumina FastTrack Services is collaborating with two experts—Kent Taylor, Ph.D. and Jerome Rotter, M.D.—who are researchers at the Los Angeles BioMedical Research Institute (LABioMed) at the Harbor-UCLA campus of the UCLA School of Medicine. Each brings expertise in a number of areas, including bioinformatics, Native American ancestry, and Hispanic epidemiology studies.

Together, they’re developing the first of several Hispanic arrays, each possessing a more refined set of SNPs to capture the contributions of the diverse ancestors of this group. The goal is to develop arrays that enable researchers to study the heterogeneity of the Hispanic population and how it impacts disease predisposition, as well as therapeutic response to current and future drug regimens.