Murdoch Children’s Research Institute
Research Field: Medical Genetics/Mitochondrial Disease
Just like a car needs fuel to run, so too does the human body. This fuel (or energy) is generated from the food we eat by mitochondria, a tiny part of every cell in our body. Mitochondrial disease is a devastating disorder that occurs when mitochondria can’t make energy properly. Our whole body needs energy to function–for example, our brains need energy to think, our muscles need energy to move and our hearts need energy to pump. So, symptoms of mitochondrial disease can include intellectual disability, muscle weakness, blindness, seizures, heart dysfunction and often death.
Mitochondrial disease usually arises from faults (called mutations) in genes. There are over 100 different genes in which mutations can cause the disease but so far we only identify the faulty gene in about half of patients. Previously study was one gene at a time to see whether it causes disease, but Dr. Tucker’s research uses new technology that investigates hundreds or thousands of genes at once. Using this technology, new genes linked to disease have been discovered and provided rapid diagnoses to patients. The techniques developed can be used for the diagnosis of other genetic conditions such as epilepsy and heart disease.
Elena has been actively involved in the media promotion of manuscripts which she co-authored. This included being interviewed by New Scientist to discuss a recent publication. She was also interviewed on Triple RRR radio segment, Einstein a Go Go. Elena has received awards for oral presentations, including the New Investigator Award from the Human Genetics Society of Australasia, and one from the
International Human Genome Meeting for a poster presentation.