New research in the treatment of Friedreich's ataxia has given some people a glimmer of hope, writes Fiona Tyrrell
NEW KNOWLEDGE of how genes are "switched" on has been hailed as a potential breakthrough in the treatment of a rare genetic disease.
The ability to switch genes back on, and the identification of new drugs to reverse the progress of the debilitating disorder has opened up new possibilities for the treatment of Friedreich's ataxia - a rare and progressive genetic disorder, which affects the nerves responsible for co-ordination and balance.
Some 20 individual research projects investigating ataxia will be presented on Thursday at the International Ataxia Research Conference in Dublin. The conference, which coincides with international Ataxia Awareness Day, is being co-hosted by Friedreich's Ataxia Society of Ireland and Ataxia UK, and focuses on ataxias - a group of neurological, and usually progressive, disorders that affect co-ordination and balance.
Of the 200 people in Ireland affected by ataxia conditions, 70 per cent will have Friedreich's ataxia. The disorder causes degeneration of the nerves in the spine and muscle tissue in the arms, legs and heart, causing progressive loss of muscle control, slurring of speech and heart disease.
The result for many people affected by the disorder is disability in early adulthood including curvature of the spine and sight, speech and hearing difficulties.
One in 120 people carries the gene for Friedreich's ataxia. For a child to inherit the disorder, both its parents must be carriers of the defective gene. Children have a one-in-four chance of being affected.
While there is no cure for the disorder, a number of research projects are offering a glimmer of hope for sufferers and their families.
Friedreich's ataxia is caused by an abnormality in a gene called frataxin, which causes the gene to switch off. A number of different research projects are now working on identifying these inhibitors and investigating whether they can be switched off.
Prof Richard Festenstein from the Imperial College London has found a way to "interfere" with this switching off mechanism. His team has managed to turn the gene back on in human cells in a laboratory setting. Now they are looking at replicating that action in living systems, in this case mice.
Drugs have been identified that can "change the way genes are expressed", he explains.
He describes these developments as "very exciting because we currently do not have treatment for this devastating disease, which in many cases will put patients in a wheelchair by early adulthood".
While there is much research focusing on the treatment of the disease, work being done by a number of research groups targeting this "switch-off" mechanism could be "radical" because it will "treat the disease at source", he explains.
"It is early days, but things are moving quickly. This is an exciting era for biology because we are now in a time where we can start to apply the knowledge we have acquired from the human genome sequencing project. Now we can do things much faster, and can find much more rational treatments for diseases."
Other developments in the field that will be presented at the conference include human trials on a synthetic antioxidant called idebenome which, it is hoped, may slow down the progression of the disorder.
While keen not to raise hopes too much, Barbara Flynn, chief executive of the Friedreich's Ataxia Society Ireland (FASI), describes recent research developments as "very positive".
"There is much more hope than there was five years ago. It is very important for people to have hope," she says.
For people working with ataxia, it is important to recognise that the condition affects the whole family, according to Flynn. Aside from the difficulties posed by having a disabled person in the family, many unaffected siblings suffer so-called "survivor guilt", she says. "If two or three of your brothers or sisters have the condition but you are unaffected, you are the lucky one. People often feel terrible guilt about this."
Diagnosis, however, has become much easier thanks to the work at the National Centre of Medical Genetics at Our Lady's Children's Hospital, Crumlin, she adds. In addition, an ataxia clinic was established in Tallaght Hospital last year.
Like many other people with physical disabilities, one of the biggest hurdles for people with the disorder is housing and personal assistance, says Flynn. In order to get on the housing list, a needs assessment must be carried out: then someone may be allocated housing, but will fail to secure personal assistance hours from the HSE.
The International Conference on Current Research into Ataxia takes place on Thursday; on Friday the Euro-Ataxia Conference will give a layman's version of up-to-date information on research and treatment for those with ataxias
• For further information contact the Friedreich's Ataxia Society Ireland on 01-289 4788 or see www.ataxia.ie