Rare disease researchers awarded
NZORD recognised two rare disease researchers at the Queenstown Research Week Satellite on Rare Brain Diseases meeting last week.
The best poster prize was awarded to Marie Viola, a Masters student from the National Institute of Molecular Biology, University of Philippines Diliman, who completed her research on a rare form of Parkinson’s disease which is endemic to the Philippines. This rare form is linked to cell proliferation (rapid division), therefore her research may have benefits for future cancer treatments as that is also related to cell proliferation.
The best talk prize was awarded to Nadia Mitchell from the Faculty of Agriculture and Life Science at Lincoln University. She gave an excellent talk on gene therapy in a sheep model of Batten Disease. This is a neurodegenerative lysosomal storage disease and leads to progressive issues such as seizures, visual impairment, intellectual decline and balance problems. Nadia explained the current research which involves injecting sheep with a gene called CLN5 by inserting it into a virus ‘carrier’. This treatment (when used for sheep who were not yet showing symptoms) provided long-term protection and tripled their life expectancy. It also halted further decline of seven-month-old sheep who were already showing severe signs of the disease.
NZORD’s Chief Executive Dr Collette Bromhead spoke at this meeting about NZORD and the services we offer, including a strong unified voice to advocate for all those with rare disorders. This satellite provided the opportunity to bring together researchers of rare brain diseases linked to genetic risk and rare disease advocates. PHARMAC were also present and gave a presentation and overview of their current rare funding application round which closes on 3 September.