DJ Jono Coleman presents genetic research grant to Imperial scientists

For Immediate Use
Tuesday 18 November

Jono Coleman, breakfast DJ on London's Heart 106.2 radio station will today meet scientists at Imperial College London who are tackling a rare genetic disease thanks to funds from the charity, the Lowe Syndrome Trust.

Mr Coleman, Patron of the Charity, will hand over a cheque for £49,785 to Dr Ramon Vilar-Compte and Dr Rudiger Woscholski, which will fund three years of research at Imperial into Lowe Syndrome.

Lowe Syndrome is a genetic disorder that affects only boys and produces bilateral cataracts, muscle weakness, kidney and brain development problems. It is a rare X chromosome-linked disease, thought to affect up to 10 per million male births.

The disease was first recognised in 1952 by Dr Charles Lowe, and is caused by a gene (Ocr1) mutation which makes a defective version of an enzyme named OCRL.

The money will support research into a chemical test for signs of the OCRL enzyme, hopefully leading to a fast, user-friendly and reliable method to help doctors diagnose and treat the Syndrome. Currently only expensive and unreliable DNA testing is available in the UK for Lowe Syndrome.

The Lowe Syndrome Trust was set up in 2000 by Lorraine Thomas, mother of 10-year old son Oscar who has the disease. Her son was eventually diagnosed with the incurable syndrome in 1999.

Mrs Thomas, chair of the Trust says: "We were devastated when Oscar was diagnosed with the syndrome at the age of nearly six. All of the children are partially sighted or blind due to cataracts and some never ever walk. Even Lowe children (boys only) 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 research being carried out Imperial College which hopefully will produce a simple test for Lowe Syndrome, leading to the development of medicines to better regulate the metabolic imbalance, or perhaps even lead the way to synthesising the missing enzyme. The aim of the Trust is to raise awareness and funding for research projects such as the one we are funding today."

Mr Coleman said "I am delighted to be able to help these little boys with big personalities."

The Trust's money will be used to fund PhD student, Marianna Mirabelli, who recently completed a Masters degree in Biomolecular Sciences at the College.

The defective OCRL enzyme in Lowe Syndrome means that carriers cannot control levels of a molecule named PIP2, which in turns leads to development of the symptoms of Lowe Syndrome.

PIP2 belongs to an important group of signalling molecules named inositol lipid phosphates, which are involved in pathways that malfunction in a number of other diseases, including some cancers, neurodegenerative disorders and heart disease.

Together with supervisors Dr Vilar-Compte and Dr Rudiger Woscholski, Miss Mirabelli will help to engineer a synthetic receptor to which only their target, PIP2, will be able to bind.

Chemist Dr Vilar-Compte will use his expertise in building receptor molecules to order -- combining fields known as supra-molecular chemistry and molecular recognition -- to make a receptor that will fit the PIP2 molecule like a lock built for a key.

"Our 'lock' must not be so strong or sticky that it never lets go of the key, nor too easy or loose for anything other than the key with exactly the right arrangement to fit," says Dr Vilar-Compte.

"However, we are not fishing in the dark. We think we can do it. We already know certain parts of the puzzle and a number of the building blocks are ready," he adds.

Working alongside Ramon, biologist and cell signalling expert Dr Rudiger Woscholski is confident that they will succeed in building the Lowe Syndrome test, helping the Trust towards realising its long-term vision.

Dr Woscholski describes the task confronting them as like making a bespoke glove to fit a hand: "Each finger needs a different fit, it has a different length or diameter. At the moment we have a number of individual fingers, but the challenge is to make the full hand glove."

"The focus of our work, this diagnostic tool, will not only greatly improve matters for Lowe patients in terms of diagnosis, but it will also significantly help other scientists. The test will contribute to the long-term vision shared by us at Imperial and the Lowe Syndrome Trust of making a drug, a small synthetic molecule, that will chew and cut the PIP2 molecule, just like the thing that Oscar Thomas is missing," says Dr Woscholski.

Dr Vilar Compte is a Senior Lecturer in the Department of Chemistry and Dr Rudiger Woscholski is Lecturer in the Department of Biological Sciences at Imperial.

Photographs of the visit and Jono Coleman handing over the cheque to the scientists will be available from Tom Miller on 020 7594 6704 or t.miller@imperial.ac.uk from Tuesday afternoon.

For more information, interviews or photographs please contact:

Tom Miller
Imperial College London Press Office
Tel: +44 (0)20 7594 6704
Mob: +44 (0)7803 886248
Email: t.miller@imperial.ac.uk

Notes to Editors

About Lowe Syndrome

Lowe Syndrome is a degenerative gene disorder that can occur with no family history, affecting boys with multiple physical and mental handicaps including cataracts in both eyes, muscle weakness (hypotomia floppy baby syndrome), kidney problems including kidney stones and loss of essential nutrients, brittle bones, arthritis, poor growth, mental impairment (autistic spectrum disorder) and epilepsy. The Syndrome has a wide variation with some children mildly affected while others are blind, unable to walk and with severe mental impairment.

About the Lowe Syndrome Trust

The Lowe Syndrome Trust is a UK charity formed in June 2000 as an affiliate of the USA Lowe Syndrome Association (LSA). As most children's charities exclude funding medical research, the primary aim of the Trust is to encourage medical research into Lowe Syndrome and provide UK support by raising funds for research into Lowe Syndrome in the UK, and internationally through the LSA and worldwide affiliates. The charity is funded by voluntary donations and is also supporting research at Great Ormond Street Hospital, Dundee University Biocenter, University College London and in the USA.

Web site: www.lowetrust.com

About Imperial College London

Consistently rated in the top three UK university institutions, Imperial College London is a world leading science-based university whose reputation for excellence in teaching and research attracts students (10,000) and staff (5,000) of the highest international quality.

Innovative research at the College explores the interface between science, medicine, engineering and management and delivers practical solutions that enhance the quality of life and the environment - underpinned by a dynamic enterprise culture.

Website: www.imperial.ac.uk