Oscar Thomas, who suffers from the debilitating Lowe Syndrome, has visited the University to meet Dr John Lucocq in the School of Life Sciences. Dr Lucocq is leading research to advance understanding and treatment of this rare genetic disease.
Lowe Syndrome was first recognised in 1952 by Dr Charles Lowe, and is caused by a defective gene (Ocrl1). It affects only boys and produces cataracts in the eyes, defects in brain development and kidney problems. Life expectancy is short for boys suffering from the disease, due to its complications.
Dr Lucocq has been awarded a grant of £49,869 from the Lowe Syndrome Trust to undertake research on the protein, Ocrl1, which 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.
Lorraine Thomas, Oscar's mother, established the Lowe Syndrome Trust after her son was diagnosed with the incurable syndrome in 1999.
No Government support or UK research into the syndrome was available at that time, and for the last three years Lorraine has devoted her life to raising money for the charity.
The Trust has now raised £150,000 and a number of research projects have now begun at Great Ormond Street Hospital, Imperial College, University College London as well as here at the University.
Lorraine Thomas explained, "The Lowe Syndrome Trust is delighted to award a grant of £50,000 to the University of Dundee to further research into the rare disease called Lowe Syndrome.
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."
Dr Lucocq said, "I am delighted the Lowe Syndrome Trust has selected our group to lead the UK effort in improving the understanding of this terrible disease.
I have been told that the grant award reflects our reputation for top quality research into the pathways of protein transport inside the cell. The funding will allow us to find out 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. It was a privilege to meet Oscar and his parents who made a special effort to come all the way from London to discuss our research here in the School of Life Sciences."