| Title: | Identification of genetic causes of human disease |
| Lead Institution: | NYU Grossman School of Medicine |
| Principal investigator: |
Application 105564
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About
Our research is aimed at identifying and understanding the genetic causes of inflammatory diseases. We intend to use data from the UKBB to identify specific genes or variants associated with severe inflammation (Aim 1). We also plan to look at phenotypes associated with genes/pathways previously implicated in inflammation such as the ubiquitylation pathway (Aim 2). Such efforts in similar databases have helped uncover new disease pathways and helped illuminate molecular diagnoses. By identifying novel genetic causes of disease we intend to both better understand the basic processes involved in causing inflammation and to potentially provide new genetic diagnoses with ultimate goal of providing precision medicine in rheumatology. Our efforts have already identified a novel genetic cause of inflammation, VEXAS syndrome, and now widely recognized, and we intend to continue to expand our understanding of inflammatory disease to improve public health. We intend for this project to last for at least 3 years, but likely for the duration of our research program.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 21532 | Genomic ascertainment of systemic autoinflammatory diseases: a retrospective cohort study in two population-based biobanks | Defne Ercelen (+10) | 2026 | The Lancet Rheumatology |
Enabling scientific discoveries that improve human health