Primary organisation: Garvan Institute of Medical Research
Principal Investigator: A/Professor Jodie Ingles
Flagship requested: Cardiovascular genetic disorders
Co-applicants: A/Professor Dominica Zenter (Royal Melbourne Hospital), Ivan Macciocca (Royal Children’s Hospital Melbourne)
Approval date: November 2024
Applicant’s project summary:
Monogenic cardiovascular diseases are a group of disorders of the heart and blood vessels caused by a genetic variant (a DNA change) occurring in a single gene. People with a genetic cause for their cardiovascular disease are more likely to have symptoms starting at a younger age, and other family members also affected by the condition. Genetic testing for cardiovascular diseases has been part of mainstream clinical management for over a decade and involves identification of disease causing genetic variants. However, genetic testing only finds the causative variant in approximately 40% of patients. We will recruit cardiovascular participants who have not had a causative genetic variant identified through genetic testing, to identify the underlying genetic causes of monogenic cardiovascular diseases. We aim to increase genetic diagnoses, better understand disease mechanisms, inform clinical translation, drug discovery, and treatment and management practices, through generating new knowledge and understanding of cardiovascular diseases.