Research hub to tackle rare genetic illness

Published on Friday 12 November 2010 14:10

A RESEARCH centre aimed at finding new treatments for a distressing genetic mutation with strong links to autism is to open in Scotland this week following a determined fund-raising campaign.

The centre - the first of its kind in the UK - will focus on fragile X syndrome (FXS), which can cause severe learning difficulties, language impairment and behavioural problems such as anxiety and hyperactivity.

Researchers at the centre at the University of Edinburgh want to develop new therapies for the condition, with trials set to start next year.

Ultimately, it is hoped the research will also produce treatments for autism, which has links to FXS.

The centre has been made possible by the fund-raising efforts of families affected by the condition. Reem Waines and Gus Alusi, whose five-year-old son Kenz has FXS, have already raised tens of thousands of pounds and have pledged a six-figure sum for the centre.

It has also been made possible with support from Edinburgh University graduate Dr Alfred Wild, in memory of his brother Patrick who was severely autistic.

The family started fund-raising to help research into FXS in 2008 and went on to climb Mount Kilimanjaro with friends and colleagues, raising 45,000.

More: Fragile X syndrome

• 'It took 17 months to get his diagnosis'

• The signs of Fragile X syndrome

They are planning next to cross the Sahara in a 3,700-mile drive from London to Timbuktu with Alusi and 21 friends in cars costing less than 1,000.

FXS is the most common inherited form of intellectual disability, and the most common known genetic cause of autism spectrum disorders.

The family, who have had to travel to the US for specialist help for the condition, hope the new centre - to be called the Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities, will also be a hub for UK patients and their families.

Peter Kind, a professor of developmental neuroscience and co-director of the new centre, said: "Fragile X syndrome shares many behavioural symptoms in common with the autism spectrum disorders.

"Because we now know the genetic basis of fragile X syndrome, our hope is that we can use this knowledge to understand the biology of both fragile X syndrome and autism spectrum disorders. This new centre will facilitate the study of these conditions."

The aim was to translate that understanding into new medicines. "This is currently what is being achieved for fragile X syndrome and we hope to be able to do the same for some types of autism," Kind said.

Next year the centre will take part in international trials of a new treatment for FXS, which should help combat some of its most challenging symptoms.

The drug being tested targets a particular mechanism in the brain which may be faulty in people with FXS. This should reduce the behavioural problems, such as anxiety and lack of concentration.

"In terms of the behavioural symptoms, especially the anxiety disorders, there is real hope that those will be helped," Kind added.

Prof Andrew Stanfield, co-director of the centre, said the new treatment was an "exciting" development.

"We are at the beginning at the moment, but it is hoped that you might be able to give things which could at least prevent deterioration or possibly even reverse the effects of the dysfunctional gene."