Research into an often overlooked neurological disorder, dystonia, has been reignited by vital seed funding provided by a Sydney charitable foundation to the Garvan Institute of Medical Research.
Dystonia is a neurological movement disorder involving sustained or intermittent involuntary muscle contractions that cause abnormal and often repetitive movements or postures, or both. It is the third most common movement disorder and has few treatments and no cure. The Garvan study will focus on two of the most common forms of dystonia; those affecting the neck and vocal chords.
In most cases, the cause of dystonia is unknown. However, several gene changes or faults have already been confirmed as causing dystonia (including TOR1A, THAP1 and GNAL).
Paul and Valeria Ainsworth, directors of the Paul Ainsworth Family Foundation, said they decided to facilitate the research after learning about Garvan’s leading genetic research capabilities.
Dr Kishore Kumar, a neurologist and Postdoctoral Research Fellow at Garvan is teaming up with Professor John Mattick, Professor Carolyn Sue, Associate Professor Marcel Dinger and Dr Mark Cowley to use Garvan’s whole human genome sequencing capabilities to study dystonia.
“Our team will use Garvan’s cutting edge genome sequencing platform to investigate the genetic basis of these dystonias,” Dr Kumar said.
“Hopefully, this will help us better understand the cause of dystonia and will eventually lead to the development of new treatments in the future. We are also aiming to establish a large database of genomes that can be re-accessed and reviewed at any time in the future to help analyse any potential new insights as they come to light.
“Philanthropic support like this is absolutely vital to our work. I’ve been working with dystonia patients for many years and I have seen the debilitating impact of the condition first hand. My team is passionate about understanding this disorder and developing better treatments and cures.”
Mr Ainsworth said dystonia sufferers and their families all over the world need answers as to why this debilitating disorder develops.
“Hopefully as a consequence of this research, new options for treatment, prevention or a cure will eventually emerge,” Mr Ainsworth said.
“My wife and I are absolutely confident in Garvan’s researchers and the technology at their disposal to achieve goals otherwise considered unattainable.”
Mr Andrew Giles, CEO of the Garvan Research Foundation said philanthropic support of this nature is vital to sustain innovative research projects, such as the Ainsworth Dystonia Project.
“We’re very grateful to the Paul Ainsworth Family Foundation for providing important support to a disease area in dire need of more attention. The reality is, for every dollar of funding our researchers receive, we still need to raise another 70 cents in order to sustain research projects. So, the Ainsworth’s philanthropy allows Dr Kumar and his team to focus on dystonia, understand the cause and hopefully, find better treatments or even a cure,” said Mr Giles.
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