| Title: | Comprehensive study of genome-phenome associations in complex diseases and comorbidities in multi-ethnic populations |
| Lead Institution: | Broad Institute |
| Principal investigator: | Professor Bonnie Berger |
Application 46341
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About
Clinical medicine has long recognized that certain diseases often occur together. For example, many individuals with autism spectrum disorder also have inflammatory bowel disease. Unfortunately, the shared genetic and molecular mechanisms that underlie these connections are poorly understood. Clinicians are therefore forced to treat each symptom individually instead of treating the shared pathology. The search for treatments can thus be time-consuming and frustrating for both patients and medical providers as relief from symptoms may be elusive. This is further complicated by the fact that a person's individual response to treatment depends on their unique set of genetic and environmental risk factors. Yet, how diverse ethnic backgrounds and environmental exposures affect diseases is also poorly understood. The aim of this study is to help fill both of these knowledge gaps. Our goals are 1) to uncover the genetic and molecular commonalities which cause certain diseases to occur together and 2) to understand how these risk factors are influenced by ethnicity and environment. To do so, we will apply the latest in machine learning and artificial intelligence to understand these patterns using the diverse data available through the UK Biobank. We will report our findings in a way that visually summarizes the connections between diseases and their genetic and molecular mechanisms, connections between patients' symptoms and genetic makeup, and connections between genetic makeup and response to treatments. We believe our findings will help streamline the healthcare process, moving clinical practice towards medicine personalized to each person.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 7482 | Assessing single-cell transcriptomic variability through density-preserving data visualization | Ashwin Narayan (+2) | 2021 | Nature Biotechnology |
Enabling scientific discoveries that improve human health