Project: SIGMA

The Slim Initative for Genomic Medicine in the Americas is a partnership between the FundaciĆ³n Carlos Slim the Broad Institute and Mexican collaborators to advance research on key diseases of relevance in Latin America, such as cancer, type 2 diabetes, and kidney disease. The type 2 diabetes component has made the following fundamental discoveries:

  • Association of coding variants in SLC16A11 with T2D, explaining as much as 20% of the increased prevalence of T2D in Latino populations [Williams SIGMA Nature paper]
  • Functional characterization of the molecular mechanism by which variation in SLC16A11 causes reduced function of this monocarboxylate transporter [Rusu and Hoch Cell paper]
  • Association of a novel variant in the diabetes gene HNF1A with T2D, present in at least 2% of Mexican individuals with T2D and conferring 5-fold risk [Estrada SIGMA JAMA paper]
  • Development of a high-throughput insulin secretion assay for functional characterization of associated loci and small molecule screening [Burns Cell Metabolism paper]
  • Generation of a mouse null for the T2D-associated gene Igf2bp2, describing alterations in glycemic metabolism [Dai Cell Metabolism paper]
  • [if accepted] Discovery and characterization of an exon splice variant in IGF2 which confers protection from T2D in Mexicans [hyperlink to Mercader Diabetes paper]
Genetic Discovery