AG NICOLE EXPLAINS HER RESEARCH WORK

 
 
Thanks to our Assistant Governor Nicole Lake for taking the time to be our guest speaker and to tell us about her critical research into mitochondrial disease in children.
 
Mitochondrial disease is a genetic disorder that robs the body's cells of energy. Over time, this can cause multiple organ dysfunction and potentially death. The condition can be inherited from the mother or father or both parents. It can also arise as a spontaneous genetic mistake at conception.
 
Depending on which parts of the body are affected, people with mitochondrial disease can:
  • Lose their sight or hearing
  • Suffer muscle weakness and pain
  • Experience difficulties in eating, walking and talking normally
  • Have strokes or seizures
  • Suffer heart, respiratory or digestive problems
Recent research shows that one person in 200 carries genetic mutations that may put them at risk of developing the disease. Compare that to one in 3500 who contract cystic fibrosis and one in 15000 who will develop motor neurone disease. Based on these disturbing figures, it is important that a cure to mitochondrial disease is found.
 
The Australian Mitochondrial Disease Foundation (AMDF) was set up in 2009 to help fund research which will hopefully find the cure. Nicole is playing a vital part in this program. She is undertaking a PhD scholarship at the Murdoch Children's Research Institute at the Royal Children's Hospital.