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Deciphering expression and variants in CVD genes among heart failure population for precision medicine.
Jan 01, 2024
Our latest article published in ESC Heart Failure, i.e.,
Deciphering expression and variants in CVD genes among heart failure population for precision medicine.
Cardiovascular disease (CVD) is the leading cause of death in the United States and around the globe. Despite significant advancements in CVD diagnostics, prevention, and treatment, approximately half of the affected patients reportedly die within 5 years of receiving a diagnosis. The risk factors contributing to the development of CVD and response to therapy in an individual patient are highly variable. Evidence from the Framingham Heart Study suggests that CVD has a complex multifactorial aetiology including a genetic component. Genomics information, including high-quality sequenced DNA and RNA sequencing (RNA-seq) of transcribed genes, informs us of a CVD patient's inherent genetic makeup with the most comprehensive view of the genome. DNA-based gene variant detection when combined with RNA-seq-driven gene expression analysis has the potential to reveal novel and sensitive biomarkers and stratify CVD patient populations based on their disease risk. The genetic variants predisposing to CVD span from rare and deleterious mutations that may be responsible for familial aggregation. Investigating differentially expressed genes (DEGs) and disease-causing variants can support finding the root cause of uncertainties in patient care. Understanding of the genetic basis of complex CVD can hamper genetic risk scoring which can now outperform traditional risk factors in risk prediction.
Publication:
- Ahmed, Z.* (2024). Deciphering expression and variants in CVD genes among heart failure population for precision medicine. ESC Heart Failure. 11, 606-609. PMID: 38131165. (Heart Failure Association of the European Society of Cardiology. Wiley).