Lowe Syndrome Trust Awards Research Grant to Yale MD
Jonathon Ross-supported charity funds genetic study of incurable disease
research like this offers the promise of a significant breakthrough
Lorraine Thomas, Lowe Syndrome Trust
Lowe Syndrome was brought to wider public attention last year when Faye Morton, Patsy Kensit’s character in the TV drama Holby City, watched her son Archie die of the disease. It affects thousands of boys worldwide who are born with a range of symptoms which can leave them mentally impaired, blind and unable to walk or talk. Sadly, few live to become adults.
The genetic basis for the disease is a defective gene which leads to deficiencies in an enzyme, affecting the brain, eyes, kidneys and bones. It is this gene – OCRL1 – which Dr De Camilli is studying at the Department of Cell Biology, Yale University, often considered the birthplace of modern cell biology.
Dr De Camilli said: “We hope that results of these studies will help design therapeutic strategies for patients affected by Lowe syndrome. We are delighted to receive this grant award from the Lowe Syndrome Trust.”
He continued: “This funding will allow us to expand ongoing studies on cellular proteins that interact with OCRL and that function together with OCRL. While we know that OCRL acts by modifying a class of cellular lipids; the elucidation of OCRL interactions is critical to understand how OCRL is regulated and targeted to specific intracellular sites.”
Lorraine Thomas, chair of the Lowe Syndrome Trust, said: “This sort of funding is why the Lowe Syndrome Trust exists. We’ve been fundraising for ten years now, with the support of so many people – not least patrons such as Jonathan Ross and Penny Lancaster Stewart – and it’s wonderful to be able to put those funds into the hands of scientists who might be able to make a difference. At the moment there’s no cure and no specific treatment for Lowe Syndrome, so research like this offers the promise of a significant breakthrough.”
Further grant announcements are expected shortly.
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Notes for editors
About the Lowe Syndrome Trust
Supporters of the charity include trustee Jonathan Ross, patrons Penny Lancaster Stewart (wife of Rod), Christopher Biggins, Sir Richard Desmond, Tom Conti, Melanie Sykes, Melanie Blatt, Sir Richard Sykes and Baroness Susan Greenfield, and many other supporters and fundraisers including Tony Hadley (Spandau Ballet) and jazz musician Jamie Cullum. The Trust is celebrating its tenth anniversary year in 2010 through a series of fundraising events with the target of raising £1m.
The Lowe Syndrome Trust is a UK registered charity, No 1081241.
For further information regarding Lowe Syndrome Trust tenth anniversary events and initiatives please contact Mark Emms on 0845 127 6676 or , or visit http://www.lowe10.com
About OCRL1 and Pietro De Camilli’s study
Pietro De Camilli’s study is on the cellular proteins that interact with – and function with – the gene, with a view to understanding how OCRL is regulated and targeted.
Pietro De Camilliis based at the Department of Cell Biology, Howard Hughes Medical Institute, Yale University School of Medicine.
For general information about the Lowe Syndrome Trust, please contact:
Lorraine Thomas, chair
Tel: 020 7794 8858 / 07958 444020
For further information regarding Lowe Syndrome Trust tenth anniversary events and initiatives please contact:
Tel: 0845 127 6676
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