12 February 2007

Research into rare disease continues

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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