Inaugural Rare Disease Day Award winners
Congratulations to the award winners at our inaugural Rare Disease Day Awards Evening: Sue Scott (Advocacy and Patient Support award), Professor John De Roach (Researcher award), and Professor Merrilee Needham (Clinical Professional award).
Patient Advocacy and Support Award: Sue Scott
Sue Scott was awarded the inaugural Rare Voices Australia (RVA) GaRDN Rare Disease Day Patient Advocacy and Support Award in recognition of the extraordinary difference she has made through advocacy and patient support in genetic and rare diseases in Western Australia. Sue has been awarded for her excellent work over the past 20 years running single-handedly the Cystinosis support group for Australian families, all while raising and supporting her adult daughter, who is affected by cystinosis.
Sue is the ‘glue’ of the cystinosis community in Australia and known internationally amongst the cystinosis community. Sue works tirelessly for the cystinosis community, fundraising, attending conferences at her own expense, providing information for families and medical professions and advocating to ensure cystinosis patients in Australia have access to treatment available internationally.
The nominator stated, “Without Sue, the Australian cystinosis community, of 30-35 people and their families, would not have a combined voice or a sympathetic ear to be listened to”.
Researcher Award: Professor John De Roach
Professor John De Roach was awarded the inaugural GaRDN Rare Disease Day Researcher Award in recognition of the extraordinary difference he has made through research in genetic and rare diseases in WA. Professor Roach has been awarded for his research work on Inherited Retinal Diseases (IRD) and establishing the Australian Inherited Retinal Disease Registry and DNA Bank.
Approximately 1/1500 people in Australia are affected with an IRD. Although individually, each genetic type of IRD is extremely rare, this class of disease is the leading cause of untreatable blindness in working age people in Australia. In 2001, a registry was established for Western Australian people affected by an IRD because Professor De Roach and his team had the foresight that the first new treatment for these conditions will be gene-specific. This is now proven true with the first gene therapy for IRD approved by the FDA in 2018 as Luxturna.
In 2001, the WA registry for IRD began collecting DNA, usually as blood or saliva, from each new person admitted into the registry. In that year, they only collected 25 DNA samples. They won funding from Retina Australia (WA) to employ a research geneticist, and began the task of developing strategies for analysing the DNA they had collected, in parallel with strategies for raising funds to pay for these genetic analyses.
They continued along this path until 2009. By this time, both animal and human trials with gene-replacement therapies were having success in halting or reversing vision loss for a small number of the genes known to cause IRD. Because of their experience with the WA registry and DNA bank, Retina Australia approached them to see if they were interested in extending their resource nationally. They were subsequently funded to do this, creating the Australian Inherited Retinal Disease Registry and DNA Bank, which is now an internationally recognised mature resource.
Since 2001, they have attracted $5.75M of funding to study this rare disease. In that time they have given more than 40 presentations at national and international conferences on the genetics of inherited retinal disease and published extensively in the peer-reviewed literature.
Clinical Professional Award: Professor Merrilee Needham
Professor Merrilee Needham was awarded the inaugural GaRDN Rare Disease Day Clinical Professional Award in recognition of the extraordinary difference she has made through clinical practice in genetic and rare diseases in Western Australia. Professor Needham has been awarded for her excellent work as a consultant neurologist, and her contribution to the rare group of inflammatory myopathies.
Professor Needham’s neurological training was carried out at Royal North Shore Hospital (RNSH) followed by Westmead Hospital. During this training she began her research, starting by reviewing a cohort of 300 patients with mitochondrial disease. She presented this research at the annual scientific neurology conference in 2004 and at the world congress of neurology in 2005. In 2007 Merrilee received the World Muscle Society Fellowship award for Young Scientist 2007
Throughout this period, she was actively involved in teaching, running tutorials for medical students, teaching of nursing and allied staff as well as the basic physician trainees. She was also a staff specialist at RNSH during the time that she served at RNSH.
In 2006 Merrilee began her PhD studies in Perth under the supervision of Professor Frank Mastaglia, investigating the clinical, epidemiological and genetic aspects of IBM. She completed her PhD studies in September 2009, and began work as a consultant neurologist at RNSH in Sydney in December. During this period, she established many collaborators throughout Australia. Her interest in IBM continued in Sydney, managing a large cohort of patients, and established international collaborations to continue research into IBM. This resulted in her joining international expert opinion groups on IBM, and attracting clinical trials in IBM to Australia.
Merrilee returned to Perth in January 2013 to continue the neuromuscular and myositis clinics at the Perron Institute. In December of that year she obtained the position of the head of department at the new Fiona Stanley Hospital, (FSH) and planned and commissioned the neurology and neurophysiology departments throughout 2014 and early 2015.
Professor Needham also works as a consultant neurologist and leads the neuromuscular research at the Western Australian Neurosciences Research Institute (WANRI), with academic appointments at both University of Western Australia and Murdoch University. She has a subspecialist interest in neuromuscular diseases, with a particular interest in sporadic IBM.
In 2015 Merrilee was awarded the Leonard Cox award by the Australian and New Zealand association of Neurologists (ANZAN) in recognition of her contribution to neurosciences. Merrilee’s research work has been widely published and her contribution to the rare group of inflammatory myopathies generally known as Myositis and in particular IBM, has been very significant. Myositis is presently incurable and patients can experience very substantial disability.