Research Profile

Genetic studies have provided numerous insights into the understanding of type 2 diabetes (T2D). However, most of these studies have been predominantly performed in individuals of European ancestry, despite individuals of other ancestries, like those with Latin American ancestry have much higher prevalence of T2D and are also more likely to suffer from diabetic complications, such as diabetic kidney disease or heart attack. Recently, new studies have identified genetic variants that are only present or more frequent in individuals of Latin American ancestry, which are helping us understand T2D, as well as identifying potential drug targets for treatment of T2D. To understand how genetic variation causes T2D, studies on tissues relevant for T2D, like muscle, liver, adipose tissue and pancreatic islets are needed. Most of the tissues for which there is genomic information to understand the effect of genetic variants have been performed in individuals of European ancestry, and are not useful to understand variants that are only present in individuals of Latin American Ancestry. Likewise, the clinical characterization of individuals carrying variants associated with T2D, for example, how they response to diabetes drugs or to a meal, is crucial to understand how these variants modify disease risk. This project will overcome these gaps by performing genomic analyses in tissues relevant for T2D in individuals of Latin American ancestry, and will characterize individuals who participated in several pharmacogenomic and clinical studies. This study will help understand how Latin American specific variants cause T2D and will help develop new drugs for this disease.

Type 2 diabetes, which is the most common form of diabetes is caused by environmental and genetic factors. This project tries to understand how the genetic factors cause diabetes, but also how genetic factors can affect response to different drugs. While there have been several studies to understand these questions, most of these studies have been performed predominantly in participants of European ancestry. However, individuals of other ancestries, like Hispanics and Latin Americans, who have increased risk of type 2 diabetes, have been severely underrepresented in genetic studies. The goal of our project is to generate and gather enough genetic information from participants of Latin American ancestry, so that we can understand how genetic variation specific of that ancestry group affect diabetes and their treatment response. In the future, we are hoping that precision medicine is equally accessible to everyone regardless of their genetic ancestry and background. We are hoping that our project will contribute towards that goal.

Diabetes is a global epidemic. While diabetes can be prevented by having a healthier lifestyle, genetic factors increase risk of diabetes independent of lifestyle choices. Learning what are the genetic causes of this disease can help us understand the pathophysiology of this disease, and this can help develop drug targets, preventive strategies, and precision medicine programs that will allow to prescribe the right medicine to the right person at the right moment. There is a huge health disparity in the studies that will eventually allow precision medicine, because most studies have been performed in individuals of European ancestry. Our project, by focusing in participants of Latin American ancestry, which has increased prevalence of type 2 diabetes, will contribute to address this disparity.

In my opinion, one of the directions that the future of diabetes research should take is to include more diversity into the research studies across all disciplines. There is a lack of studies that include non-White populations for the development of therapies, identification and calibration of biomarkers, diagnosis and prediction, which creates huge health disparities. With the incorporation of precision medicine, which are based on genetics and genomics research, these health disparities are becoming even larger due to the lack of genetic and genomic data from sufficiently diverese ancestries. This is the main motivation of this research project, which aims to expand genomic and pharmacogenomic research to participants of Latin American ancestry, which is one of the populations with higher risk of diabetes and complications. We are expecting that this project will serve as an example and motivate diabetes research move increasingly towards this direction, expanding to other ancestries and other fields of diabetes research.