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29 April 2004
Lowe syndrome
A young boy who suffers from the debilitating Lowe Syndrome appeared live on GMTV this morning with his
mum and the scientist who is leading research to advance understanding and treatment of the genetic disease
at the University of Dundee.
Oscar Thomas (10), his mum Lorraine and Dr John Lucocq from the School of Life Sciences were interviewed by
Lorraine Kelly live on LK today to tell viewers about the sydrome and the vital research that is going on in
DUndee to find a treatment and ultimately a cure for Lowe syndrome. Lowe Syndrome is a rare genetic disorder
that affects only boys and produces cataracts in the eyes, defects in brain development and kidney problems.
Life expectancy of the boys is short due to the complications of the disease. The disease was first
recognised in 1952 by Dr Charles Lowe, and is caused by a defective gene (Ocrl1).
Dr Lucocq has been awarded a grant of £49,869 from the Lowe Syndrome Trust run by Lorraine Thomas to
undertake research on the protein, Ocrl1, which is produced by the faculty 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 established the Lowe Syndrome Trust in June 2000 after her son was diagnosed with the
incurable syndrome in 1999. No Government support or UK research of the syndrome was available at that time,
and for the last 3 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 University of Dundee.
Lorraine Thomas explained: "The Lowe Syndrome Trust is delighted to award a grant of £50,000 to the
University of Dundeeto further research into the rare disease called Lowe Syndrome.
Sadly, due to lack of awareness and funding, many children only live until their teenage years due to the
complications of the disease which causes partial sight, blindness, arthritis, rickets, mental impairment,
speech and development delay, tooth and bone decay and kidney failure.
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 UKeffort 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 is a privilege to have work
with the Thomases who have made a special effort to come and discuss our research here in the School of Life
Sciences.
Dr Lucocq is a Principal Investigator in the School of Life Sciences at the University of Dundee.
Note to Editors
The Lowe Syndrome Trust was established in June 2000 in the United Kingdom and will work closely with the
Lowe Syndrome Association in America. The Objectives of the Trust is to raise money for research which will
hopefully allow Lowe children to live longer, healthier lives.
Lowe Syndrome is an incurable genetic condition affecting males that causes physical/mental handicaps and
medical problems.
The Syndrome is caused by a defective gene resulting in a deficiency of an enzyme which affects the brain,
kidneys, eyes and bones.
For further information contact: The Lowe Syndrome Trust: Tel: 020 8458 6791 www.lowetrust.com
lthomas@care4free.net
By Jenny Marra, Head of Press 01382 344910, out of hours: 07968298585, j.m.marra@dundee.ac.uk
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