Principal Investigator: Professor Sohail Tavazoie
Department: The Rockefeller UniversityTags: 62709, cancer, genetics/genotyping, Germline, infectious diseases, survival
A major reason for why humans are different from one another is a myriad of small differences in their genetic makeup – collectively called genetic variation. Genetic variation accounts for obvious differences, such as hair colour. Importantly, genetic variation is also an important factor for why certain people are more susceptible to acquiring certain diseases, such as cancer, and for why certain people are more likely to have adverse outcomes of diseases, such as a higher likelihood to die of infectious diseases. Although the contribution of genetic variation to shaping cancer and infectious disease is widely appreciated, the vast number of genetic variants present in the human population has previously made it difficult to study their impact on human health systematically. Given its large size and thorough annotation, the UK Biobank provides an unprecedented opportunity to characterize the impact of genetic variation in cancer and infectious disease. We plan to leverage these data to understand how genetic variants alter the risk to acquire certain cancer types and/or infectious diseases, and how specific genetic variants associate with beneficial and adverse outcomes, such as premature death. We hope that our findings will contribute to ultimately personalizing medicine and using one’s genetic makeup to personally tailor preventive and therapeutic measures. Therefore, the public health impact of our findings is potentially large.