14 December 2016

Study takes gene testing to new heights

A WA Health researcher is set to discover whether the use of advanced genetic testing can improve the healthcare management of children with stunted growth.

A WA Health researcher is set to discover whether the use of advanced genetic testing can improve the healthcare management of children with stunted growth.

PathWest genetic pathologist Dimitar Azmanov is one of three WA Health researchers to receive a Department of Health/Raine Foundation Clinician Research Fellowship in the latest round of the program announced today.

Dr Azmanov will use his fellowship to strengthen and streamline the genetic investigation of children with short stature who have been treated with growth hormone therapy.

Not all children respond to growth hormone. Dr Azmanov is hopeful that improved genetic testing will identify the children who will benefit from treatment before growth hormone injections are started.

Some children need higher doses of growth hormone.

“Importantly the additional testing will allow these children to be treated adequately right from the beginning with a taller final height outcome,” Dr Azmanov said.

He said that another important benefit may be the early detection of the 20 per cent of cases who will not respond to growth hormone.

“For these children, it currently takes up to two years of growth hormone injections before it becomes clear that the therapy is not working. With growth hormone therapy costing at least $14,000 a year per child, this could yield significant cost savings to the health system,” he said.

Now in its fifth year, the Clinician Research Fellowship program is an initiative of the Department of Health in conjunction with the Raine Medical Research Foundation.

The program provides funding for up to three years and can be up to $150,000 a year, depending on the extent of the research proposal and the applicant’s salary. The clinicians maintain some of their clinical duties during the period of their fellowship.

Clinician Research Fellowship Round 5 recipients are:

Dr Dimitar Azmanov

Genetic Pathologist, PathWest
Project: Diagnostic genomics applications for short stature

Project summary

Genetic testing using contemporary technological and research advances can enhance patient care for children with endocrine disorders. For example, the Australian Growth Hormone Programme uses tailored treatment for patients with short stature if there is a proven genetic component; however, current tests can identify only 5% of the known genetic causes. This project aims at introducing efficient and comprehensive diagnostic tests and associated professional guidelines for management of patients with genetically determined short stature. Immediate benefit from the studies will reflect in the individualised patient therapy, minimised cost of a diagnostic odyssey, and improved social and genetic counselling support.

Associate Professor Wai Lim

Consultant Nephrologist, Sir Charles Gairdner Hospital
Project: Improving health outcomes of kidney transplant recipients

Project summary

The incidence of end-stage renal disease (ESRD) has reached global epidemic proportions, affecting 1000 person-per million population in 2014. Although kidney transplantation is the treatment of choice for patients with ESRD, long-term graft outcomes have remained unchanged, with graft loss secondary to rejection and/or disease recurrence being the most common. With the advancement of technology combined with sophisticated statistical techniques, we are now able to address these gaps in transplant research. Our projects will aim to promote the most advantageous allocation policies to achieve a balance between utility and equity and identify critical factors associated with graft loss after kidney transplantation.

Associate Professor Tobias Strunk

Consultant Neonatologist, King Edward Memorial Hospital
Project: Pentoxifylline to protect the preterm brain

Project summary

Each year more than 25,000 Australians are born preterm or critically ill. Advances in how we treat these babies has led to dramatic improvements in their survival but many still face health problems resulting in $2 billion per year in annual hospital costs. Serious bacterial infections and bowel inflammation can affect about half of babies born very preterm (more than 10 weeks early). While our current treatments save most babies, we urgently need to find new ways to treat the long-term side effects of these infections. Pentoxifylline is a promising, safe and affordable medication that may increase survival without disability.