Molecular and Clinical Advances in Lowe Syndrome

Also on the agenda is Yale research news
on the connection between a single gene mutation and the numerous symptoms of
Lowe syndrome. Led by Pietro De Camilli, a professor at the School of Medicine,
a paper published in Developmental
Cell in November 2007
, describes the molecular process that produces the

Professor Robert Nussbaum , who is Head of Medical Genetics,
University of Southern California,
USA, will be
our opening guest speaker and he will give an overview of recent developments
in research on Lowe syndrome, and what progress has been made in our
understanding of this multi-system disease.

Professor Jeremy Nicholson from Imperial College London
(Biological Chemistry) will end the day with a lecture on new and powerful
analytical approaches to identifying novel (and potentially diagnostic)
biomarkers of disease.

Lowe syndrome is a genetic disorder caused by a missing
enzyme and this can affect the brain (with seizures, mental retardation,
impaired speech and developmental delay), the kidneys (with loss of important
salts and nutrients, and eventual kidney failure), the eyes (with cataracts),
the bones (with deformity and arthritis), and the muscles (with weakness).
Unfortunately, few children survive beyond their late teens or early adulthood.

The cost of registration is £30 (free for PhD students and
research fellows) and includes a buffet luncheon, tea and coffee.  To
register, please contact Lorraine Thomas on 0208 458 6791 and visit for more information
email lowetrust @ homechoice .co uk

The Second International
Symposium of the Lowe Syndrome Trust

10.00 am Registration, tea and coffee

Morning Session

Chair: Prof. Robert
Unwin, UniversityCollegeLondon (UCL), UK

10.10 am Introduction by Lorraine Thomas, Founder and Chair
of the Lowe Syndrome Trust, London, UK

10.15 am Plenary lecture – Prof. Robert Nussbaum, University of California at
San Francisco USA – Studies on INPP5B, a potential modifier of Lowe Syndrome

11.00 am Dr Martin Lowe, School of Biological Sciences, University of
Manchester, UK – Cell Biology of the Lowe Syndrome protein OCRL1

11.25 am Prof. J Lunardi, Laboratoire de Biochimie de l`ADN, Grenoble, France –
OCRL1 mutations:Is there any correlation between genotype and phenotype

11.50 am Dr John Lucocq, School of Life Sciences, Dundee, UK – OCRL1 function
in cells of the nervous system

12.15 am Dr Andrew Wallace, National Genetics Reference Laboratory, Manchester,
UK – Lowe syndrome mutation screening in the UK

12.45 pm Lunch

Afternoon Session

Chair: Prof. Robert
Kleta, UniversityCollegeLondon (UCL), UK

1.45 pm Prof. Michael Ludwig, Clinical Biochemistry,
University of Bonn, Germany – Lowe syndrome versus Dent disease 2 – does type
and/or location of OCRL1 mutation predict phenotype

2.10 pm Prof. Arend Bokenkamp, Department of Paediatrics, VU Medical Centre,
Amsterdam, The Netherlands – Should `Dent-2` be renamed to `Lowe-light`?

2.35 pm Dr Helen Cross, Institute of Child Health (UCL), London, UK – Lowe
syndrome: neurological aspects and their management

3.00 pm Dr Tim Levine, Department of Cell Biology, Institute of Ophthalmology
(UCL), London, UK – A role for OCRL1 in Calcium signalling

3.30 pm Tea and coffee

Chair: Dr Anthony
Norden, CambridgeUniversity Teaching Hospitals, UK

3.50 pm Prof. Steve Scheinman, Department of Nephrology,
SUNY, Syracuse, USA – OCRL1 mutation with an isolated renal phenotype

4.15 pm Rudiger Woscholski, Division Cell & Molecular Biology, Imperial
College, London, UK – Characterization of novel small molecule diagnostic tools

4.40 pm John Land, Institute of Neurology (UCL), London, UK – Neurometabolic
problems in the Lowe syndrome

5.15 pm Guest lecture – Prof. Jeremy Nicholson, Biological Chemistry, Imperial
College, London UK – Metabonomics and biomarkers of disease

6.00 pm Close of meeting

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Welcome to the Lowe Syndrome Trust