OSCAR THOMAS did what every small boy would do when given a lab coat and (almost) the free run of a building full of corridors like Dundee University’s Wellcome Trust Biocentre—he birled around at light speed and had a ball.

For the 10-year-old it looked just like the cartoon Dexter’s Laboratory, one of his TV favourites. In reality Dr John Lacocq is the head of the lab who is charged with finding out why a disease may prevent Oscar from surviving beyond his mid-teens.

Oscar has Lowe’s syndrome, a rare genetic dis-order in boys which produces cataracts, brain development defects and kidney problems.

He was diagnosed in 1999 and his mother Lorraine, from London, was initially told he would not live beyond seven.

She traced information via the internet and founded the Lowe’s Syndrome Trust when she discovered that treatment received no government support and was the subject of next to no research in the UK.

Through celebrity auctions and balls she has raised £150,000 which has been given in three research grants to Great Ormond Street Hospital, University College, London, and now Dundee University.

Dr Lacocq, of the university’s School of Life Sciences, will use the £50,000 to research the defective “Ocrl1” gene, which causes Lowe’s syndrome.

“When Oscar was first diagnosed I was told rather bluntly that it was simply a case of pure bad luck on my part,” said Mrs Thomas. “It can be hereditary but not in my case.

“Some boys suffer complete blindness, arthritis, mental impairment, tooth and bone decay and kidney failure. Oscar is not a severe case but it’s a disease which gradually deteriorates the sufferer and it’s just heartbreaking to see it take hold.

“The objective of the trust is to fund medical research which will hopefully lead to the development of drugs to better regulate the metabolic imbalance of Lowe’s and eventually a cure.”

Dr Lacocq’s task is to examine just how the defective gene is not picked up by the Gogli protein within cells.

“This protein is like a traffic policeman which directs all the other proteins to their places within the cell, and what we are trying to do is find out why it isn’t doing its job with Ocrl1,” he said.

“We believe that the kidney and nerve cell functions which cause Lowe’s syndrome are the result of this movement of proteins and if we discover why it is happening in these cases we can do something about treating it.”