Cover photo: Dr Tonkin with Thomas Jones

In a simultaneous announcement with a research team from Philadelphia headed by Ian Kranz, it was confirmed that there is a definite mutation on chromosome five that causes the syndrome.

CdLS families from UK and Ireland at the Foundation’s AGM in Stratford were the first to hear the news as an embargo on the discovery was lifted in New York as the results were published in the scientific Bible Nature Genetics.

Coverage

Throughout the next week newspapers, magazines and broadcasters covered the story of the breakthrough.

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.

For many years it was believed that the affected gene could be on chromosome three but this became increasingly unlikely as tests were carried out.

Alan Peaford, chairman of the CdLS Foundation, told the media: “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 60 per cent of the samples being tested in Newcastle and Philadelphia show involvement of this new 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 we can all design new medical therapies; understand the role the gene plays in development; offer reassurance, through genetic testing, that other family members are not affected; provide accurate information and counselling resources for future pregnancies and improve awareness of the syndrome in the medical/scientific research community.”

The research at Newcastle almost came to a grinding halt last year when nine years of funding from the British Medical Research Council and the Action Research dried up. The team had to borrow items of equipment and reagents to keep the project alive.

Working together with the parent support group, an application was made to The Community Fund for a lottery grant. The award for £145,094 over three years proved to be the lifeline the project needed.

Funding challenge

Professor Strachan said that he hoped that the breakthrough would lead to more funding support and was frustrated and concerned that more money was not available for such ground-breaking work.

“We are leading the field internationally. But it is not attracting the funding because the condition is thought to be so rare. I feel that as a society and nation we are letting these children and their parents down,” he said. He argued that if the research was to progress, Newcastle needed to have a minimum of £150,000 a year to identify gene mutations, investigate the gene’s function and start work on models to chart the complex progression of CdLS. “We need three times as much money as we are currently getting,” he said.

Alan Peaford praised the work done by the Newcastle and Philadelphia scientists and said the existence of a clinical diagnosis would transform the lives of parents by giving them and their children a future.

“Knowing this means that doctors will be able to diagnose the condition correctly and that is fantastic. We have been waiting for about 15 years to get the call from the scientists telling us that this is possible. All the families have been through such a lot of blood sweat and tears.”

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 Grant programme’s aim is to direct funds towards medical research which might not attract support from elsewhere.”

Life-changing

The news was met with elation throughout the world with members of the CdLS Federation celebrating the discovery.

Chairman of the World CdLS Federation Scientific Advisory Council, Dr. Alex Levin, from the University of Toronto Hospital for Sick Children said: “This is a milestone achievement and will help us to understand much more about this syndrome.

“Families with people affected by CdLS all over the world will acknowledge with gratitude the great work started by Dr. Jackson and completed by Drs. Kranz and Strachan. This has been a long haul but the work by our professionals has been tireless. This will make an immense difference to the families.”

Julie Mairano, Executive Director of USA CdLS Foundation said: “News of this discovery will touch people with CdLS and those who care for them in many ways.

Bernadette Darlingwater, President of CdLS Canada said: “This will change the lives of our families and future generations. The increased awareness in itself will aid all people connected to CdLS worldwide.”

CdLS Australia’s Jenny Rollo paid tribute to the pioneering work of Laird Jackson and to the success of the two research teams.

“Thanks should also go to every family who contributed to this discovery. Those who gave blood samples, answered questionnaires, attended conferences and spoke to attending doctors.

“Families have opened up their lives by putting themselves in directories and allowing their children to be the subject of media stories. All have contributed to increasing the base of knowledge available to researchers through increased membership of support groups around the world.”.