An informatic pipeline to democratize access to genetic data from minority patients with intracerebral hemorrhage

Project: Research


  • Guido Jose Falcone (PI)


Spontaneous intracerebral hemorrhage (ICH) is the most devastating form of stroke. One third of ICH patients die during hospital admission and an additional third remain severely disabled. Epidemiological studies have demonstrated that race and ethnicity powerfully modify the incidence, prevalence, treatment and prognosis of this condition. While the interaction between race/ethnicity and traditional (non-genetic) risk factors has been extensively studied, data on a similar interaction for genetic risk factors is extremely limited. Our overarching goal is to potentiate ICH genetic research in minorities by assembling, harmonizing and openly sharing the largest collection of genetic studies of this disease collected to date. We will subsequently utilize this newly created data resource to evaluate whether genetic risk factors for ICH identified in whites also play a role in other race/ethnic groups and to identify novel transethnic genetic risk loci for this condition. Our main hypothesis is that the genetic architecture of ICH varies significantly across races and ethnicities. To test this stated hypothesis, we will leverage the revolutionary framework provided by the Precision Medicine Platform (PMP); the principal investigators' proven leadership and experience in the development and utilization of open access data resources; and guaranteed access to phenotypic and genetic data (both chip array and sequencing data) from 9,033 ICH cases and controls, including 4,379 individuals from minority populations. We will pursue the following specific aims: (1) design, test and deploy within the PMP an analysis pipeline that will upload, harmonize, quality control and make freely available genetic data on 9,033 ICH cases and controls; (2) estimate the heritability of ICH across different race-ethnic groups and evaluate whether ICH genetic risk loci identified in whites also play a role in other racial/ethnic groups; and (3) identify novel trans-ethnic risk loci for ICH with consistent effects across different populations. This proposal will revolutionize the field of minorities research in ICH genetics by collecting, harmonizing, analyzing and publicly sharing the largest trans-ethnic collection of genetic studies of this disease assembled to date. Collectively, the proposed research aims will concretely contribute to identify new biological and treatment targets to be pursued in subsequent translational experiments.
Award amount$200,000.00
Award date07/01/2018
Program typeInstitute - Democratizing Data
Award ID18IDDG34280056
Effective start/end date07/01/201806/30/2020