» Genetics
A breakthrough for all
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Great news: Alan Peaford and his daughter, Victoria. |
It was from Professor Laird Jackson, the first doctor since Dr de Lange herself to take a serious interest in CdLS. Laird began looking at the cause of the syndrome when he first met CdLS kids in the late 1970s, and headed up the first real research at Thomas Jefferson in Philadelphia.
His email was as laid back as ever, “ok, we’ve got it!” he said and went on to explain in confidence, how his protégé Dr Ian Kranz - now working at the Children’s Hospital of Philadelphia (CHOP) - had found the gene. “We have definitive mutations in four very different children and the parents in each case do not have the mutation, confirming that this occurs sporadically most of the time,” he wrote.
Laird, as part of the “open sharing” agreement with Newcastle University left a message for Professor Tom Strachan to get him to call. Strachan, who was away in London, returned to the International Centre for Life laboratories the following day to get the message …and also to be met by a very excited Dr Emma Tonkin who had received results back from their DNA screening which confirmed they too had found a mutation.
Both laboratories had the same mutation on chromosome five.
Over the next four months, both labs worked hard to “prove” the mutation and submit their respective scientific papers to Nature Genetics, the US-based international focal point for genetic research. On May 16th at 1pm New York time (6pm in London) the veil of secrecy was finally lifted.
CdLS UK families were at Stratford when the news could be given.
There was an audible gasp from the floor when I was able to share this news that we have all been waiting for and I was glad that Emma Tonkin was there to hear the genuine delight for herself.
This is a major breakthrough for the Foundation. It has been like a quest for a Holy Grail for many of us involved with the syndrome for many years.
I would like to acknowledge the gratitude of all of the families, carers, friends and other professionals to the scientists in Philadelphia and in Newcastle for not giving up when they could have done. To doctors like Laird Jackson and Maggie Ireland who really fired the enthusiasm for the research; and in the UK and Ireland we acknowledge with grateful thanks the role of The Community Fund who directed a lottery grant to Newcastle so that the research could continue.
We had the optimism and dashed hopes before, but this time it is for real.
In this issue we look at what it means for us – and we will continue to report on developments over the next few years. But for now, let’s celebrate!
Alan Peaford
Chairman
CdLS World Federation