Researchers discover gene that causes rare disorder

Researchers from Newcastle University in the UK have ended a 15-year search for the gene that causes the rare Cornelia de Lange Syndrome. (CdLS).

CdLS affects just one in 40,000 live births but can be devastating, with affected youngsters having growth problems, missing or deformed limbs, gastro-intestinal disorders, seizures, cardiac problems, neurological, learning and behavioural difficulties and oro-dental issues.
Doctors in the USA and Europe knew that there was likely to be a rogue gene that caused the syndrome but despite more than 15 years of searching it hadn’t been found.

But there has now been a breakthrough by a team led by Professor Tom Strachan, at Newcastle University’s Institute of Human Genetics. They report in Nature Genetics that the gene has been located to chromosome five.

The findings have been confirmed by a simultaneous study carried out in the United States at the Children’s Hospital of Philadelphia.
Alan Peaford, chairman of the parent support group, The Cornelia de Lange Syndrome Foundation, said: ’This is fantastic news. Over the years we have had a number of false starts when we thought the gene had been found. Now, something like 50 percent of the samples being tested in Newcastle and Philadelphia show involvement of this gene. Work must now go on to develop the testing so we can identify the problem in a much wider sample.

’It was important to have found the CdLS gene so we can confirm the diagnosis; understand it and improve existing therapies, as well as design new medical therapies.’

It is believed that almost 1,000 people in the UK are affected by the condition.

The research at Newcastle almost came to a halt last year when nine years of funding came to an end. The team kept the project alive with a lottery grant from the community fund. The award for £145,094 over three years proved to be the lifeline the project needed.

Dr Birgit Brandt, Community Fund’s Research Grants Manager, said: ’The Community Fund would like to congratulate the Cornelia de Lange Foundation on its breakthrough. It is very fulfilling to see that Lottery money has made such a difference in this instance. One of the Research Grants programme’s aim is to direct funds towards medical research which might not attract support from elsewhere.’