Senior staff specialist at Westmead Hospital’s Neurology Department and Huntington’s Disease (HD) Service, Elizabeth McCusker, can remember the
day in March 1993 that, after years of effort, the HD genetic abnormality was announced.
“My colleagues, and Robyn Kapp, CEO of Australian HD Association, NSW, telephoned and rejoiced, ‘the cure must surely be close!’,” Dr McCusker recalls.
More than 20 years on and, in spite of much collaboration and commitment from international HD researchers, patients and their families, a cure has
not yet been found for the debilitating, hereditary neurodegenerative disease.
HD is caused by a gene mutation that each child of an affected parent has a 50 per cent chance of inheriting.
Age of onset varies, but is typically in their 40s. The disease causes involuntary movement and dementia, emotional and behavioural problems.
“It’s disappointing that all these years have gone by and there’s still no cure,” Dr McCusker says. “We know that people with HD have the genetic mutation from birth, but when, how, and why exactly does the disease start and progress?
“On the horizon is the possibility of manipulating this genetic mutation by gene silencing, which would reduce the effect of the abnormal gene.”
Dr McCusker’s training in neurology included study at the University of Rochester in New York with the founder of the Huntington Study Group, Dr Ira Shoulson.
On return to Australia, she headed up the HD outpatient clinic at the former Lidcombe Hospital in 1988. In 1995 she moved to Westmead Hospital and established the HD service that includes outreach multidisciplinary care.
In 2008 Associate Professor Clement Loy took over. Dr McCusker now concentrates on research.
“Our team has been involved in international and local drug trials, observational studies, as well as Westmead’s own HD research projects,” she says.
“They have included participation as a research site for the landmark 10-year study of premanifest mutation carriers, Predict HD; the observational
study COHORT; and the current observational study, ENROLL HD, which aims to recruit up to 20,000 participants as a means of searching for genetic modifiers, but also to enable trial-readiness for people at different disease stages.
“There is a very close-knit, international group of researchers and clinicians.
“It is compelling work.
“Care is better now but the hope is that we will progress to the ultimate cure.”