A golden opportunity for genetic research: singer Tony Hadley presents grant to College

Celebrity patron of the Lowe Syndrome Trust presents cheque for continued research into rare genetic condition - News

Tuesday 20 March 2007
By Danielle Reeves

Patron of the Lowe Syndrome Trust, Tony Hadley, presented a cheque for GBP 10,000 to fellow patron, Sir Richard Sykes  today, for academics at Imperial to continue their research into the rare genetic Syndrome.

In addition, the Chemical Biology Centre at the College will be awarding a GBP 87,000 grant to the research team to continue their work. This follows a GBP 49,785 donation to the College from the Trust in 2003, which has funded three years of research by Dr Rudiger Woscholski  and Dr Ramon Vilar .

Lowe Syndrome is a rare, incurable genetic disorder that affects only boys and produces congenital cataracts in the lens of both eyes, muscle weakness, weak bones and kidney and brain developmental problems. The disease is caused by a gene mutation which makes a defective version of an enzyme named OCRL1, which is needed for normal function of tissues like the lens, brain and kidney. Having a defective OCRL1 enzyme means that carriers cannot control levels of a signalling molecule called PIP2, which is involved in pathways that malfunction in a number of other diseases, including some cancers, neurodegenerative disorders and heart disease.

Dr Woscholski and Dr Vilar's groups' research has already made significant steps towards developing a synthetic chemical receptor for selective PIP2 binding. The long term aim of this research is to create a user-friendly, reliable tool for diagnosing Lowe Syndrome.

Taking the work forward, the research team hopes to improve the sensitivity and selectivity of the current system for the detection of PIP2. The teams' aim is to develop multi-receptor arrays that can provide specific recognition patterns for the target molecule even in the presence of other competing molecules, therefore creating a series of new receptors with distinct binding functionalities.

The Lowe Syndrome Trust was established by Lorraine Thomas – who also attended today's presentation ceremony – in 2000, when her son Oscar (then aged five) was diagnosed with the disease. The trust supports researchers worldwide in their efforts to gain knowledge and tools to tackle the disease.

Mrs Thomas, Chair of the Trust, says: "We were devastated when Oscar was diagnosed with the syndrome at the age of five. All of the children are partially sighted or blind, due to cataracts and some never ever walk. Even Lowe children who are doing quite well with the disease, sadly deteriorate with the condition and most die in their teens.

"I am so grateful for the work being carried out by Drs Woscholski and Vilar and their teams at Imperial, thus aiding us in our aim to raise awareness and funding for research projects that will one day lead to treatments and some increased hope for these boys. We are thrilled that the initial seed funding from the Lowe Syndrome Trust has led to a substantial award to the research team from Imperial College, and hope that all research aimed at elucidating Lowe Syndrome will attract the attention of other funding bodies."

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