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Lowe Syndrome Trust Awards Research Grant to Yale MD

2010-05-18

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

May 18, 2010, Press Dispensary. The Lowe Syndrome Trust, the UK based charity which funds vital research into Lowe Syndrome, an incurable children’s disease, continues to mark its tenth anniversary year by awarding a grant of GBP £80,000 to Pietro De Camilli, M.D at Yale University, for research into the syndrome’s underlying genetic disorder, with the hope of improving therapy for sufferers.

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
Lowe Syndrome Trust was set up in June 2000 by Lorraine Thomas after her son, Oscar, was diagnosed with the condition in 1999. No government support or UK research into the syndrome was available at that time and, for the last ten years, Lorraine has devoted her life to raising money for the charity, which now supports many families affected by the disease and has become the main source of grants to fund research across the UK and USA. It was recently accepted by the NHS as an NIHR Partner Organisation, boosting its ability to attract the highest quality research studies.

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
Lowe’s oculocerebrorenal syndrome (to give it its full name) is a disorder affecting the brain, eyes, kidneys and bones in boys. The genetic basis for Lowe Syndrome is a defective gene, OCRL1, that results in the deficiency of an enzyme Phosphatidylinositol 4,5-bisphosphate-5-phosphatase.

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
The Lowe Syndrome Trust
Tel: 020 7794 8858 / 07958 444020
Email:
Site: www.lowetrust.com

For further information regarding Lowe Syndrome Trust tenth anniversary events and initiatives please contact:
Mark Emms
Tel: 0845 127 6676
Email:
Site: www.lowe10.com

Media contacts

Lorraine Thomas, chair
Tel: 020 7794 8858 / 07958 444020
Email:
Site: www.lowetrust.com

For further information regarding Lowe Syndrome Trust tenth anniversary events and initiatives please contact:
Mark Emms
Tel: 0845 127 6676
Email:
Site: www.lowe10.com

Keywords/tags:
Jonathan Ross Penny Lancaster Stewart Lowe Syndrome Trust genetic study research grant charity

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Rod Stewart and patron Penny Lancaster Stewart

Rod Stewart and patron Penny Lancaster Stewart

(L-R) Lorraine Thomas (founder and chair), Rod Stewart, Penny Lancaster Stewart (patron) and Andrew Thomas. At a former Lowe Syndrome Trust fundraising event.