in London which the UK researchers and
others including R. Nussbaun, M.D, former head of the NHGRI USA are attending. back Lowe Syndrome Trust Research Grants Research Grant Application
The objective of the charity is to initiate and fund medical research which will hopefully lead to the development of drugs to better regulate the metabolic imbalance of Lowe’s and eventually a cure.
As well as medical research we would also welcome proposals for a clinical database as an application or a hosted service so that we can decide on the best practise and likely funding or any other resources needed to support it. See draft paper on a clinical research database and LSA newsletter special research section <pdf>
If you wish to apply for a grant for a medical research project please see
Request for Proposals.
The proposal will be submitted to the charity medical advisory board and follows
a peer review process. The charity
encourages collaboration among researchers. The trust is holding a symposium on
7th Dec 2007
in London which the UK researchers and
others including R. Nussbaun, M.D, former head of the NHGRI USA are attending.
The charity has helped contribute to projects in USA and is currently funding research project in the UK and USA. Example are:
During 2002 a grant of £9000 was made to support a Kidney Research Project at Gt Ormond Street Hospital/ICH London, headed by Dr Van't Hoff, Robert Unwin and Guido Laube, to whom Lowe Syndrome patients have donated urine samples so that OCRL kidney cells can be cultured and also made available for other research projects. The research is entitled “An investigation of intracellular metabolism in renal proximal tubular cells from patients with LOWE-Syndrome”.
In December 2002 a major award of £50,000 over 3 years was made to the
Department of Chemistry, Imperial
College London to support a Phd studentship to
research a chemical test for the OCRL enzyme. The research is entitled "Synthetic
receptors for inositol phosphates: a novel diagnostic tool for the
oculocerebrorenal syndrome of Lowe" by Dr Ramon Vilar-Compte and Dr
Rudiger Woscholski . The
grant will also be used to fund PhD student, Marianna Mirabelli, who
recently completed a Masters degree in Biomolecular Sciences at the College.
This research is now being conducted in UK under Dr. Joachim Steinke and in
Spain under Dr
Ramon Vilar who has now transferred to
Tarragona
Spain at the Institut Catala d´Investigacio Quimica ICIQ). See Imperial
College grant award.
In July 2003 a grant award £50,000 over 3 years was announced to University College London "Assessment of Golgi structure and membrane traffic in cells lacking P1 (4,5) phosphatase OCRL1".
In October 2003
a grant award was announced to Dr
John Lucocq of Dundee University for a 3 year research project entitled
"OCRL1 and its Lipid products - high resolution
localisation and their
role in membrane traffic and cell polarity". See Dundee
University Grant Award.
In 2003 Dr Martin Lowe at Manchester University started a 3 year research project entitled "Targeting of the phosphoinositide phosphatase OCRL1 to the golgi apparatus".
In June 2005 the
charity announced a grant award to Moorfields
Eye Hospital Institute of Ophthalmology
to Dr
T Levine
for
a research project
into
Lowe Cataracts
entitled “Cell Biological Analysis OCRL1
in human lens epithelial cells.
In November 5th 2005 a grant was awarded to Dr Antony Norden for a Kidney Cell research project at the Department of Clinical Biochemistry, Addenbrooke's Hospital Cambridge.
In March 2006 A grant was awarded to fund the first year of a 2 year research project at UCSF headed by Dr Nussbaum (formerly of NHRGI).
History
The UK charity initially supported the USA Lowe Syndrome Assocation (LSA) with an award of $15,000 towards a total of $60,000 funding for two research projects. The first grant was to Prof. Jeremy W Thorner, Division of Biochemistry, Molecular Biology University of California, Berkeley, USA entitled "Phosphatidylinositol 4-Kinase, Pik1, Shuttles Between the Nucleus and the Cytosol Exploring the Physological function of PtdIns (4) Generation in the Nucleus". The other research project entitled "Genetic Suppressors of 5-Phosphotase Mutants in C.Elegans" was carried out by Erik M.Jorgensen, Ph.D and Kimberley R. Schuske Ph.D in the department of Biology at the University of Utah in Salt Lake City USA. LSA reviewers commented on the projects as "well conceived and outstanding", "promising" and "have the potential to reveal significant insights about Lowe Syndrome and lead to new treatments".
The first international medical conference on Lowe Syndrome was held at the National Institutes of Health (NIH) in Bethesda, Maryland USA. in October 2002. The event was supported by a grant from the USA Office of Rare Diseases, the Lowe Syndrome Association USA (LSA) and the Lowe Syndrome Trust. The Trust would especially like to thank the LSA, lead by Kaye McSpadden, Director of medical affairs and Robert L. Nussbaun, M.D, head of the NHGRI and all the participants.
The meeting was attended by about 30 people, with some parents and a
specially invited group of distinguished doctors and researchers from across the
USA, England, France and Italy from disciplines including opthalmology,
neurology, nephrology, dermatology, dentistry and endocrinology. The purpose of
the meeting was to discuss the clinical problems in Lowe Syndrome, consider
issues relating to treatment and identify possible avenues for clinical
research. The UK Lowe Syndome Trust attendees were Dr David Taylor, Prof
Bruce Caterson, Mike Harrison and parent Andrew
Thomas. 
The picture (courtesy of the LSA) shows some of the attendees: L-R front 2 rows: G.Jacobs, M.Tietz, Bruce Caterson (LST), Rebbeca Wappner, M. Tiez, David Walton, Christine Liang, Jean-Francois Gaddisseaux, Steven Wassner, Mario Loi, John Digiovanni, Graig Langman, Sharon Suchy, Richard Lewis. L-R back 2 rows: Robert Nissbaum, A Thomas (LST), Ann Smith, Andrea Gropman, Lawrence Charnas, Carol Clericuzio, Thomas Hart, David Taylor (LST), Mike Harrison (LST), Ingrid Taff, Eileen Brewer, Mark Benfield. Missing from photo William Gahl, Steven Holland, Uta Lichter-Konecki, Leslie Whitty, Philip Zeitler.
The meeting addressed issues including the proper treatment of infantile glucoma and the advisabilty of lens implants, the link between renal disorders, cartilage and growth, growth hormone therapy, kidney transplants, the nature of cysts common in Lowe Syndrome and behavior observations (such as the hand-flapping well known to parents). Lowe Syndrome behavior was classified as an Autistic Spectrum Disorder. A full account of the meeting is available from the LSA.
On 2nd Dec 2004 a second symposium was held at the Royal Society in London which the UK researchers, European and others including R. Nussbaun, M.D, head of the NHGRI USA is attended. The outcome of the discussions on the links between Dents disease and Lowe syndrome clearly indicated that clinical syndromes as they are described in the medical literature are not simply accounted by a single or multiple gene defects. See Press Release
The meeting was chaired by Prof. Robert Unwin UCL and was opened by Lord Turnberg, Scientific Advisor to the AMRC, followed by Prof. Nussbaum head of the cell biology division of the National Human Genome Research Institute in the United States. Robert discovered the Lowe's syndrome gene on the X-chromosome and has been instrumental in Lowe Syndrome research. Presenters included Dr. William van’t Hoff, Great Ormond Street Hospital, Marianna Mirabelli from Imperial College London, UK and Spain, Dr. Martin Lowe from Manchester University, Prof. Chris Oliver from Birmingham University, Prof. Steve Scheinman, Upstate Medical University, USA and Dr. Pedro Cutillas from the Ludwig Institute. Nationalities at the meeting included France (ASL), UK, USA (LSA), Spain, Germany and Italy (AISLO).The results of a recent parent survey carried out by the LSA was offered to the participants. See symposium for further details.
On December 9th 2006, a group of researchers gathered in a satellite meeting at the 46th American Society of Cell Biology (ASCB) meeting in San Diego. This satellite meeting, sponsored by the Lowe syndrome Trust (UK) and given under the auspices of the largest and most prestigious professional scientific society for cell biology in the world, the ASCB, was well attended by 40-50 cell biologists, including a number of young investigators from outside the Lowe syndrome field who were attending the ASCB meeting.
A suggestion that had wide support was the establishment of a clinical data base of Lowe patients from around the world, to enable researchers to correlate clinical symptoms with DNA tests, Enzyme tests, and treatments.