| Title: | Gene discovery for cardiomyopathies |
| Lead Institution: | Institute for Stem Cell Science (inStem) |
| Principal investigator: | Dr Dhandapany Perundurai |
Application 67095
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About
Cardiomyopathies are a group of heart muscle diseases affecting their functions. Abnormal thickening of cardiac muscles usually occurs in cardiomyopathies. Typically, if not treated appropriately, this disease will increase in severity and affect cardiac pumping capacity. Such conditions will drastically reduce the blood supply to the organs; thereby, more exertion for carrying out daily routine activities is needed. In some instances, it may also cause sudden death. Most of the affected members inherit the disease majorly through receiving defective genes from one of the parents. As these defective genes and its mutation types determine the disease course, discovering genes associated with cardiomyopathies are crucial for developing better treatment and accurate risk prediction. Globally, it is highly essential to study diverse ethnic groups for a complete understanding of the disease and to avoid ethnicity-specific treatment disparities. This study aims to compare the cardiomyopathy causing genes in different ethnic populations. We will use the genetic and clinical data from India and the UK to achieve this goal. Genetic association studies in diverse ethnic populations will facilitate accurate identification of risk factors and developing tailor-made treatment strategies for cardiomyopathies. The duration of this study is for three years1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 13831 | Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy | Pratul Kumar Jain (+16) | 2021 | Journal of Medical Genetics |
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