Dr Helen Williams, Scientific Officer in Westmead Hospital in has received a research grant to establish a collection of blood samples from 500 people with familial hypercholesterolaemia (FH).
Familial hypercholesterolaemia is a genetic disorder that affects about 1 in 250 people and increases the likelihood of having coronary heart disease at a younger age.
“You probably know some people have high cholesterol and that this increases risk of heart attack and stroke,” Helen said.
“Some people have inherited genetic mutations that give them extremely high cholesterol, but they usually don’t even know it.
“So you can see young, seemingly healthy people, dying from heart attacks. What we’re doing is collecting samples from people with this mutation and storing them so that they’re available for us and other researchers to access.”
The blood samples will be transported to the NSW Health Statewide Biobank and therefore can be accessed, not only by Helen’s team at Western Sydney Local Health District but also by other researchers who want to use the samples to improve diagnosis and treatment of FH.
The staff at the Biobank will process the samples into different blood products, such as cells and plasma, and store them securely until they are requested from researchers.
Helen said, “Using these samples can help us all to understand the mutations and develop ways to detect and treat the condition to reduce heart attacks in this population”.
In Australia, only 10 per cent of people with FH are aware of their condition, so improving detection is critical.
“You know how newborn babies have a blood sample taken onto a card to test for rare conditions” Helen said. “Well we’ll use blood samples collected onto these same cards to develop a test for FH that could then be used to screen for FH in newborns.
“Detecting FH in babies could allow early treatment and decrease the risk of heart attack. We also want to see if some blood cell changes that happen in FH are resistant to medication to help us understand if new medicines could be useful in reducing risk.”
This is Helen’s first grant as the primary investigator which she said is really exciting.
It can be especially tough for primary carers to be competitive in research so I was thrilled to find out my application was successful while on maternity leave with baby number three.”Helen Williams
“I also get to work with a brilliant team and am looking forward to representing research within WSLHD when we share the news of this Biobank with other Australian researchers,” she added.
The Office of Health and Medical Research (Ministry of Health) funded the grant and Helen will begin work right away on collecting the samples.
“That’s the main focus for now,” Helen said. “Once the Biobank is established I’m really interested to see what ideas other researchers have for using these samples, so building awareness of the Biobank is also very important.”