Related coverage on Scottish TV
A grant award visit on 28th October 2005 to Dr John Lucocq of Dundee University for a 3 year research project entitled “OCRL1 and its Lipid products – high resolution localisation and their role in membrane traffic and cell polarity” was widely reported in Scottish press and Trust chair Lorraine Thomas, husband Andrew Thomas and son Oscar were featured on Grampian Television news and Radio Tay FM.
While a large cheque had been prepared ready for a photograph to mark the occasion, neither the Thomas family or Dr John Lucocq knew there would be widespread Scottish press and TV interest (organised by the University Press office) until after they arrived at Dundee School of Life sciences building to meet to discuss the grant award. “We all went to the entrance to take a photograph of the cheque when suddenly we realised that all the cameras and people gathered in the foyer were there for us” said Lorraine. “We had not even intended Oscar to be there”.
“They thrust microphones at us and asked questions that we were totally unprepared for, while my husband chased after Oscar who was trying to climb over the balcony with John’s laptop PC. Oscar calmed down and was brilliant when asked to be in the photograph, although he then amused the crew by discovering John’s bald patch and re-arranging my hair. We then had to put on white coats to be filmed being interviewed in the laboratory. While we were desperately trying to look and say something sensible, Oscar caused some concern while he was removed from the glass test tubes and dangerous chemicals during filming, but his comments on it looking like Dexter’s laboratory on Cartoon Network was included in the news story”.
When we were driving across the Dundee Tay Bridge we switched on the radio of the hire car and were surprised to listen to a news report (on Tay Radio FM) and then later watched ourselves on the television news.
That evening at the hotel, everyone was very friendly saying hallo to Oscar and we met one of the new players (in the swimming pool) recently signed to Dundee Football team, Italian international Fabrizio Ravanelli who went up to his room and returned with his No 11 Dundee football shirt that he signed and gave to the charity for auction at the next charity event.
Next morning at breakfast, Oscar discovered his picture and articles in the local newspapers.
Note: Grampian TV have agreed to send a copy of the 2 minute news feature on DVD and .MPG file. This includes Oscar’s picture behind the new presenter and comments made to the reporter wearing white coats in the laboratory, and Oscar playing a computer game on a laboratory computer.
Oscar’s future in Dundee lab’s hands
The Courier 29.10.03 http://www.thecourier.co.uk/output/2003/10/29/newsstory5297047t0.asp
Researching for Oscar winner
Evening Telegraph 28.10.03
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 whirled 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.”
News from the School of Life Sciences
Lowe Syndrome Funding
On 28 October 2005 Oscar Thomas met John Lucocq, whose research it is hoped will advance the understanding and treatment of the genetic disease he suffers from.
Lowe syndrome is a rare genetic disorder that affects only boys and produces cataracts in the eyes, defects in brain development and kidney problem. Oscar and his mother, Lorraine Thomas presented John with a cheque for £50,000 from the Lowe Syndrome Trust to undertake research on the protein Orcl1, which is produced by the faulty gene that is thought to reside in the Golgi apparautus. The Golgi apparatus is responsible or the processing, sorting, packaging and distribution of proteins in cells to the right destination within cells. John will investigate how the defective Ocrl1 protein affects protein sorting within the Golgi and how it could disturb the function of cells in the brain and kidney in Lowe Syndrome.
Lorraine Thomas established the Lowe Syndrome Trust in June 2000 after Oscar was diagnosed with the incurable syndrome in 1999. The objective of the Trust is to fund medical research which will eventually lead to the development of drugs to better regulate the metabolic imbalance of the disease and eventually a cure of the Syndrome.
A £10,000 award has been granted to researchers at the University of Dundee who are investigating the cause of the rare disease, Lowe Syndrome. Lowe Syndrome is a rare genetic disorder that affects only boys and produces cataracts in the eyes, defects in brain development and kidney problems. Life expectancy of the boys is short due to the complications of the disease.Dr John Lucocq, a Principal Investigator in the School of Life Sciences at the University of Dundee, was awarded a grant of nearly £50,000 in 2003 to conduct research into a key protein, Ocrl1, which he believes is linked to the defects in kidney and nerve cell function.
The trust is now awarding him a further £10,000 to continue his work. Dr Lucocq says, “This award will allow us to further investigate how nerve cell function and brain development are defective in boys with Lowe syndrome.”Lorraine Thomas established the Lowe Syndrome Trust in June 2000 after her son was diagnosed with the incurable syndrome in 1999. No Government support or UK research of the syndrome was available at that time, and for the last 7 years Lorraine has devoted her life to raising money for the charity.Lorraine Thomas explained: “The Lowe Syndrome Trust is delighted to award a grant of £10,000 to the University of Dundee to further research into the rare disease called Lowe Syndrome.”
“Sadly, due to lack of awareness and funding, many children only live until their teenage years due to the complications of the disease which causes partial sight, blindness, arthritis, rickets, mental impairment, speech and development delay, tooth and bone decay and kidney failure.” “The objective of the Trust is to fund medical research which will eventually lead to the development of drugs to better regulate the metabolic imbalance of the disease and eventually a cure of the syndrome.”Since starting the charity, Lorraine has persuaded many celebrities to back her cause, including Jonathan Ross. He says, “As a trustee of the Lowe Trust, I am delighted that we are able to fund another Dundee University research project which may result in better treatments and eventually a cure of Lowe Syndrome. We also hope that this research will entice more interest into the disease from research scientists worldwide”.
For further information contact: The Lowe Syndrome Trust: Tel: 020 8458 6791 www.lowetrust.com.
NOTES FOR EDITORS
The protein, Ocrl1, is produced by the faulty gene and is thought to reside in the Golgi apparatus. The Golgi apparatus is responsible for the processing, sorting, packaging and distribution of proteins in cells to the right destinations within cells. Dr Lucocq believes that defects in kidney and nerve cell function are linked to problems of protein transport from Golgi to other parts of the cells.
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