Gene Sequencing Chip Screens for Parkinson's Disease

Scientists have developed a cost-effective diagnostic test for Parkinson's disease (PD), which will also assist researchers to understand the genetic basis of PD and to undertake large-scale studies to identify the genes that cause this debilitating condition.
Currently there is no specific PD diagnostic test and doctors rely on their observations to make a diagnosis, which means some patients may not be prescribed the most suitable medication and around 15% of those diagnosed may actually be suffering from something else.
The Howard Florey Institute (Melbourne, Australia) research leader, Dr Justin Rubio, has created a ‘gene-sequencing chip' that screens 17 genes in all, including the six known Parkinson's disease genes plus some other suspects in one simple test, at a reasonable cost. Dr. Rubio said the gene-sequencing chip would allow for routine testing of people suspected of having Parkinson's disease.
"Around 100,000 Australians have Parkinson's disease but few have had DNA testing for the known genes that cause the disease due to the prohibitive cost,” Dr Rubio said. "In addition to providing a genetic diagnosis it is hoped that our chip will eventually be able to pinpoint genetic changes that help to predict a person's prognosis and even the treatment that best suits them.”
Dr Rubio added, "As the test is relatively cheap and only involves collecting a sample of blood or saliva, it could also be made available to the patient's relatives and those at risk of developing PD. In addition to being a diagnostic tool, this low-cost chip will allow researchers to undertake an Australia-wide gene-mapping study to identify further genes that are involved in PD. More genetic information will deepen our understanding of PD and enable researchers to work towards ways of preventing and treating the disease. The successful implementation of this technology could also lead to genetic testing for other diseases.”
Dr Rubio plans to test the chip on DNA samples from 400 people with PD who were recruited from Victoria and Tasmania (both in Australia), and this project involves collaborators from hospitals and research institutes in both states.
Using the gene-sequencing chip, Dr Rubio and his collaborators now hope to extend the ‘Gene Discovery' project to all Australian states to determine the genetic basis of PD.


Related Links:
Howard Florey Institute