Bioinformatics Seminar
Time:
Venue: Na
24 May 2016
NaFrom regulatory elements to cardiac enhanceropathies
Mirana RamialisonMonash University - Australian Regenerative Medicine Institute (ARMI)
Every day in Australia ; 8 babies are born with heart defects. It is a heavy burden for them and the families as the only effective treatment available is invasive surgery in the first year of life. Mild forms of heart defects will allow survival until adulthood ; which will put the patient at risk of heart failure. Hence ; understanding the causes of congenital heart disease (CHD) is crucial for its early diagnosis and for the care of patients suffering from it. In a few cases ; the causes of CHD can be attributed to gene mutations and environmental factors ; but to date ; the majority of these cases are of unknown origin.
Here we propose that CHD is caused by a new class of DNA-mutations that do not reside within the sequence of protein-coding genes but lie within the regulatory regions (enhancers or promoters) of our genome. The contribution of regulatory mutations in various diseases has been well established (termed enhanceropathies) ; nevertheless their role in CHD remains largely unexplored. This is because unlike protein-coding genes ; regulatory elements are difficult to identify and characterize. I will discuss the bioinformatics pipelines that we are using in our laboratory to systematically map novel regulatory regions essential for heart development and that are relevant to cardiac enhanceropathies.