Genetic clues to MS win research prize
A major breakthrough in multiple sclerosis research secured the top prize at the Danish Research Awards 2011.
The discovery of 29 new genetic variants linked specifically to multiple sclerosis (MS) was voted as this year’s most important research achievement at the Danish Research Awards 2011.
”We’re deeply honoured to win this prize for our discovery, which is the result of an exemplary international collaboration and years of hard work,” said Dr Annette Bang Oturai, of the Danish Multiple Scleroris Center (DMSC), who heads the Danish branch of the research project.
Doubled our knowledge in one stroke
The findings come from an extensive international study, said to be the largest study yet into genes and MS, and which included 10,000 sclerosis patients and 17,000 healthy control participants.
The researchers analysed nearly half a million genetic variations in the participants’ DNA through blood samples. The variations were analysed on a tiny chip, from which the scientists managed to detect 29 genetic variants that are particularly dominant in MS patients.
We won the award because our findings are very important. We still have some way to go in understanding healthy people’s risks of getting sclerosis, but there’s no doubt that this has been a breakthrough for the research community.
Dr Annette Bang Oturai
“It was a huge leap with regards to our understanding of the biological causes of sclerosis,” says Oturai. “Our result more than doubled the total number of known genetic clues to MS – from 23 to 52.”
Paves way for new initiatives
The research group continues its hard work to gain even further insights into the causes of sclerosis. This year’s breakthrough has actually paved the way for a string of new initiatives and collaborations, explains Oturai.
“In our international sclerosis partnerships we have research groups that have developed a microchip which can simultaneously screen genetic variants in more than ten autoimmune diseases, including diabetes and the bowel disease Chron’s,” she says.
“By identifying common genetic variants for the various autoimmune diseases, we hope to gain a better understanding of the breakdown in our immune system which makes it possible for the body to be attacked.”
Multiple sclerosis (MS) is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms.
MS affects the ability of nerve cells in the brain and spinal cord to communicate with each other effectively. In MS, the body's own immune system attacks and damages the myelin. When myelin is lost, the axons can no longer effectively conduct signals.
The name multiple sclerosis refers to scars (scleroses—better known as plaques or lesions) particularly in the white matter of the brain and spinal cord, which is mainly composed of myelin.
Although much is known about the mechanisms involved in the disease process, the cause remains unknown.
The researchers reckon that they have so far only uncovered around 20 percent of the genetic variants that are linked to sclerosis. The results from the microchip, which is called ‘the immune chip’, are expected as early as next year.
More on the horizon
Another chip, the Exome chip, will be used for examining genetic variations in the coding regions of the genes, including rare variants that only occur in a few percent of the population. This knowledge could further improve our ability to identify new genes relevant for MS, explains Oturais.
By surveying people about lifestyle factors such as the number of hours in the sun, smoking and alcohol, scientists are also trying to improve their understanding of the interaction between genes and how they interact with their surroundings.
Furthermore, they are looking at the role that genetic variations play in the treatment effect of various drugs. They’re hoping they can pinpoint good or bad reactions to a given treatment before the treatment starts.
Oturais’ group is taking a closer look at the controlling genes in the patient groups. These are the genes that determine whether or not the special genetic variants are expressed, because it is by no means a certainty that you develop sclerosis even if you have one or more of the 52 genetic variations that have been linked with MS.
Important for development of new drugs
We are still some way from a complete understanding of the causes of sclerosis, but this year’s Danish research achievement has brought us a big step closer towards developing new and improved medication for MS patients, says Oturai.
”We won the award because our findings are very important. We still have some way to go in understanding healthy people’s risks of getting sclerosis, but there’s no doubt that this has been a breakthrough for the research community.”
The winning contribution for the Danish Research Awards 2011 was voted for by readers of the Danish science publication videnskab.dk.
Translated by: Dann Vinther