| Title: | Understanding the genetic architecture of inherited cardiovascular conditions (ICCs) and cardio-renal disease |
| Lead Institution: | Imperial College London |
| Principal investigator: | Dr James Ware |
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About
Inherited cardiac conditions, such as hypertrophic or dilated cardiomyopathy, and more general cardiac or renal failure can affect people of any age and may be life-threatening. They may be caused by a single faulty copy of a gene that can passed from parent to child or due to gene variants in disease pathways. While the symptoms can be managed, there are currently few treatments that address the underlying cause of either ICCs or cardiorenal disease. There is also enormous variability in how these conditions manifest and progress: while many patients have few or no symptoms, others have severe symptoms, require heart or kidney transplant, or suffer life-threatening arrhythmias. We aim to better understand the genetic basis of these conditions, for improved diagnosis and to identify new treatments; to identify potentially avoidable environmental contributors; and to identify patients most likely to benefit from more intensive advanced therapies.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 11407 | Identification of an increased lifetime risk of major adverse cardiovascular events in UK Biobank participants with scoliosis | Valentina Quintero Santofimio (+4) | 2023 | Open Heart |
| 9546 | Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies | Francesco Mazzarotto (+26) | 2021 | Genetics in Medicine |
Enabling scientific discoveries that improve human health