WORKING GROUP
Scientific Strategy and Cohorts Enhancement
Stimulating research that builds upon rich and diverse datasets from around the world to advance disease understanding and lead to improved global health. Supporting projects to enhance the scientific understanding of the biological, environmental, and genetic bases of disease and facilitating research to improve clinical care and population health. Promoting inclusivity of scientific expertise and diversity in cohort populations and data.
WHAT WE DO
Core Initiatives
- Improve the diagnosis, prognosis and treatment of complex diseases, both common and rare.
- Identify high-risk individuals through the following methods:
- Genotypic risk scores
- Homozygous loss of function (LoF) variants
- Cross-cohort genetic meta-analysis of molecular ‘omics
- Copy number variation (CNV); phenome-wide association study (PheWAS)
- Cross-cohort genetic array analysis of uncommon outcomes
- Identify ultra-rare variants, mitochondria, expression quantitative trait loci (eQTL), epigenetics and apply Mendelian randomization
- Improve understanding of variability in response to treatments and identify novel pharmacogenetic (PGx) associations.
- Design a strategy for genomic enhancement to cohorts that allows countries/regions that have large cohorts with environmental data samples but limited resources for sequencing to generate genomic information.
- Identify resources needed to turn samples into data.
- Address the “diversity gap” in genomics and focus on whole genome sequencing (WGS) in low and middle income countries (LMICs).
- Explore enhancements to existing cohorts/datasets:
- Scope molecular ‘omics platforms for implementation.
- Examine use of digital health devices (i.e., Fitbits, etc.)
- Explore utility information based on patient-reported/entered data to fill in phenotypic gaps.
- Create an integrated ‘omics workspace to allow for integrative omics analyses.
Leadership
John Connolly, Ph.D.
Working Group Project Manager
Adam Butterworth, Ph.D.
Working Group Lead
Hakon Hakonarson, M.D., Ph.D.
Working Group Lead
Gad Rennert, M.D., Ph.D.
Working Group Lead
Join Us!
The Scientific Strategy and Cohorts Enhancement Working Group members meet on the second Wednesday of each month at 10:00 a.m. EST on Zoom.
Interested in Joining the Scientific Strategy and Cohorts Enhancement Working Group?
Email us at ihccinfo@ihccglobal.org and we will connect you to the team.
