Principal Investigator: Dr Shameek Biswas
Celgene Corp., Seattle, USATags: 52361, allelic-series, biomarkers, disease-progression, Mendelian randomization, PheWAS
We intend to study the role of immunological variation existing in the human population in modulating progression of diseases that have a significant immune component (cancer and neurodegeneration). There have been a number of large genetic studies that have characterized the impact of immune system on disease risk and our focus would be to extend this to disease progression in cancer and neurodegeneration. Genetic variants that affect the activity of molecule within cells can act as surrogates to model the potential effects of therapeutic intervention in a randomized clinical trial. With the integration of longitudinal assessments, we will use genetics to infer the potential therapeutic impact of targeting certain molecules in silico.
At a global level, we aim to answer this question by testing whether genetic risk from autoimmune disease associates with cancer survival. At a gene level, we will ask the same question for a subset of rare, high impact functional immune genetic variants. For neurodegeneration, we intend to prioritize genes that are enriched for expression in astrocytes and microglia, two cell types that appear important for Alzheimer’s disease risk.