Australian scientists discover genes, mutation causing epilepsy
Using advanced gene technology, Australian scientists along with a US team have claimed to have found new genes and genetic mutation that causes severe childhood epilepsies.
|Last Updated: Aug 12, 2013, 02:18 PM IST|Source: Bureau
Melbourne: Using advanced gene technology, Australian scientists along with a US team have claimed to have found new genes and genetic mutation that causes severe childhood epilepsies.
Lead researcher Sam Berkovic, Director of the Epilepsy Research Centre at the University of Melbourne and Melbourne`s Austin Hospital, said, as well as providing a pathway to treating epilepsy the research provides answers to patients and families who previously had little or no idea where epilepsy had come from.
"Parents often have a belief that they`ve done something wrong that caused this disease," Berkovic said.
"Not knowing why has been one of the most frustrating things. We`ve never really had the answer. Now we do. This also stops the need for further searching and refines the treatments," he said.
A key aspect of the research has been the ability to sequence the entire human genome, Berkovic said adding "Until now we`ve had these complex patients and we didn`t know what was going on. Now all the genes are known and the jigsaw can be completed," he said.
By using the latest genetic techniques to sequence and analyse DNA of 4,000 epilepsy patients and their relatives, the study known called Epi4Ks shared DNA sequences and patient information among dozens of research institutions.
The researchers compared the exomes, or the complete sets of genes, of 264 children with the sequences of their parents who do not have epilepsy.
Differences in the sequences of parents and children were analysed to identify potential disease-causing mutations.
The study`s other joint leader Dr David Goldstein, the Director of the Human Genome Variation Centre at Duke University Medical Centre in the US, said his team`s work identified an unusually large number of disease-causing mutations and provided a wealth of new information.
"We are now headed toward a future where we can find out why people have this disease and tailor the treatment of it. It establishes a clear path to the genetic explanation of epilepsy," Dr Goldstein said.
PTI
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts.
Cookies Setting
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device and the processing of information obtained via those cookies (including about your preferences, device and online activity) by us and our commercial partners to enhance site navigation, personalise ads, analyze site usage, and assist in our marketing efforts. More information can be found in our Cookies and Privacy Policy. You can amend your cookie settings to reject non-essential cookies by clicking Cookie Settings below.
Manage Consent Preferences
Strictly Necessary Cookies
These cookies are necessary for the website to function and cannot be switched off in our systems. They are usually only set in response to actions made by you which amount to a request for services, such as setting your privacy preferences, logging in or filling in forms. You can set your browser to block or alert you about these cookies, but some parts of the site will not then work or you may not be able to login.
Functional Cookies
These cookies enable the website to provide enhanced functionality and personalisation. They may be set by us or by third party providers whose services we have added to our pages. If you do not allow these cookies then some or all of these services may not function properly.
Targeting Cookies
These cookies may be set through our site by our advertising partners. They may be used by those companies to build a profile of your interests and show you relevant adverts on other sites. They are also used to limit the number of times you see an advert as well as help measure the effectiveness of an advertising campaign. They do not store directly personal information, but are based on uniquely identifying your browser and internet device. If you do not allow these cookies, you will experience less targeted advertising.
Performance Cookies
These cookies allow us to count visits and traffic sources so we can measure and improve the performance of our site. They help us to know which pages are the most and least popular and see how visitors move around the site. All information these cookies collect is aggregated and therefore anonymous. If you do not allow these cookies we may not know when you have visited our site, and may not be able to monitor its performance.