Garvan Breakthrough magazine - Feb 2018

How did you come to be interested in polycystic kidney disease (PKD) and the potential for genomics to help? I find PKD really interesting because it’s a relatively common condition and so it’s one we see in the clinic. In this disease, cysts progressively expand and damage the kidneys, eventually causing renal failure. As it’s an inherited disorder I often witness the powerful impact this chronic, lifelong disease has on multiple generations of the same family. Why is it so important to find a better way of diagnosing this condition? Previous methods to make a genetic diagnosis of PKD have been expensive and difficult for laboratories to perform due to six non-functional ‘pseudogenes’ near the specific disease-causing gene. As such, this testing has not been readily available, and patients are usually diagnosed only after they have developed a significant degree of disease. Our lab has worked to develop a more accurate and less expensive test using whole genome sequencing, and we hope it will help more patients. Earlier diagnosis allows patients to better understand the risks of passing on the disease before What was your professional background before joining the Garvan Institute? I worked as a small-animal vet while researching molecular and gene expression profiling of canine tumours. I was also a casual academic at the University of Sydney. During vet school and even through my PhD, I was always interested in blending clinical, scientific and business skills in an industry context, whether that be through pharmaceutical, medical research or product development. What is the role of ethics, compliance and governance in the work of the Garvan Institute? My work is at an intersection of science and business management, ensuring the Institute and research precinct comply with regulatory requirements regarding animals in research. It requires careful experiment design and good record- keeping to obtain the best representative data through healthy, unstressed animals. Our unit strives for excellence and to be exemplary leaders in this area. To ensure ethical animal use for research purposes, I head a team of staff and manage a committee in reviewing and making

decisions on experimental proposals intending to use animal models. The use of animal models is essential to Garvan’s work in finding new approaches to disease treatment and prevention, and we take the responsibility extremely seriously to be an ethical organisation that lives up to community expectations. Do you have any pets? I grew up in the countryside with my grandparents, surrounded by creatures great and small, and have always considered pets to be part of my family. This association with animals continues in both my personal and professional life. I breed Netherland dwarf rabbits and these have found loving homes with many Garvan colleagues. I also breed guinea pigs, budgies and axolotls, plus I share my home with my cavalier spaniels and Persian cats. My house is a menagerie and not for the faint of heart!

Staff profile: Dr Rayson Tan

Executive Officer – Research Ethics, Compliance and Governance

they start their families and allows better access to any potential treatments. You’re also a clinical genetics fellow at Sydney’s Liverpool Hospital – how do your clinical practice and research intersect? I enjoy working in both clinical medicine and research. Meeting patients in the clinic and seeing how much advances in science and technology have improved clinical care allows me to see the very real benefit of scientific research. Along with this, seeing the areas that we could improve in healthcare motivates me to keep pursuing research, so that we can provide patients with even better care. What are your interests outside of work? I love spending time with family and friends, cooking for them and eating too much food! Now that the warmer weather has arrived, I also love checking out Sydney’s amazing beaches.

Researcher profile: Dr Amali Mallawaarachchi PhD student, Molecular Genetics of Inherited Kidney Disorders – Genomics and Epigenetics Division

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