WEHI Special Population Health & Immunity Seminar hosted by Dr Ricardo Ataide

Dr Gemma Moi-Meyer

Postdoctoral Fellow, Christchurch Heart Institute, University of Otago, New Zealand

Missing heritability in heart failure: don’t sweat the small stuff?

Davis Auditorium

Join via TEAMS

Including Q&A session

Heart failure is defined by reduced blood-pumping efficiency, and leads to fatigue, breathlessness, and diminished quality of life. Coronary artery disease is the most common precursor to heart failure and has been the leading cause of death in Australia for the past 50 years. In coronary artery disease, part of the heart becomes oxygen deprived due to narrowing or blockages in the coronary arteries, but anything that damages the heart can result in heart failure. After onset, 50-75% of heart failure patients die within 5 years and mortality rates are 2.3 times higher in First Nations Peoples than non-Indigenous Australians. In New Zealand, Māori are also twice as likely to die from heart failure than non-Māori, making this a significant area of inequity and unmet clinical need across Australasia.

More than 25% of susceptibility to heart failure is determined by underlying genetics, and considerable efforts have been made to explore the role of single nucleotide polymorphisms in disease predisposition. However, monogenic heart muscle disorders and genome wide association studies (GWAS) have yielded few insights. Compared with single nucleotide polymorphisms, which make up ~0.05% of the human genome by coverage, copy number variants cover 100 times (5-10%) more of the genome. These large (50 bp – 10,000s bp) DNA deletions and duplications are a major cause of 65 rare genetic syndromes, including congenital heart disease, and are associated with a growing number of complex disorders. We hypothesise that copy number variants may disrupt genes or regulatory elements that are associated with heart failure and explain some of its “missing heritability”.

In this talk, Gemma will describe the first genome wide association study on copy number variants in heart failure and present preliminary data from her postdoctoral project at the Christchurch Heart Institute. The presentation will be accessible to a diverse audience (e.g., non-cardiologists/non-GWASers) and include shameless promotion of the Kiwis as excellent collaborators, and NZ as a great conference destination. 

All Welcome!