Finding cures for children's genetic diseases


Research is key during Brain Awareness Week


The brain may be one of the most complex areas of the human body, but that is exactly what drives neuroscientist, Dr Annie Quan.

“Understanding how the brain works is one of the most fascinating aspects of science,’’ she said.
Dr Quan, who works in the Cell Signalling Unit at Children’s Medical Research Institute (CMRI), is spreading the word about the importance of research during Brain Awareness Week (March 13-19).

Her work is known as “basic’’ research – however it is far from basic.

Dr Quan examines the molecular mechanisms that control the signals for transmission, in neurons. Neurons are brain cells that are responsible for our learning, memory, and development. Inside these cells are thousands of different types of proteins.

“I focus on studying the role of these proteins and the signalling in neurons and any abnormalities that control this process,’’ she said.

Dr Quan and her team are working on a project to increase understanding of how brain cells sustain communication in normal brain function. This communication process is called synaptic transmission.

“With this understanding, we can learn how to fix it when things go wrong in diseases,’’ Dr Quan said. “The project will be fundamental in developing more accurate diagnosis of neurological diseases and more efficient and effective treatments through the identification of new therapeutic targets.

“Ultimately, in the lab we want to understand the reasons why. We want to see how dysfunctions lead to Alzheimer’s, Parkinson’s and epilepsy.’’

She said, “It is important that the public understand that research, at organisations like Children’s Medical Research Institute in Westmead, is the key to providing hope for people with these conditions.”

It was at CMRI in 2006 that Dr Quan’s mentor, Professor Phil Robinson, became the first in the world to make a discovery that is leading to the development of new drugs to treat epilepsy.

“From our perspective, funding is what’s important to continue successful research,’’ Dr Quan said. “We really need the public to be interested in neuroscience research and having their support makes a real difference. People don’t necessarily understand that what we do at a cellular level, ultimately, could improve overall brain function. Hence we have to take advantage of ‘Brain Awareness Week’ to share with the public a glimpse of what we do, as neuroscientists in the lab.’’

Dr Quan said, “From a research discovery to the development of a therapy to target a disease is a slow and long process”. But despite the frustrations of her work, she was constantly inspired.

“I want to know how do we lose our memory and the ability to learn, what goes wrong?

“It drives me, for sure, and that’s why I’m still in the field. I enjoy research; I enjoy connecting the dots.

“That is the biggest driver for me--it gets me excited. Every discovery helps us piece together the giant puzzle of finding a cure to a brain disease.’’

You can support researchers like Dr Quan and their work by donating to Children's Medical Research Institute today.