About the Charity

The Lowe Syndrome Trust is a UK Charity formed in June 2000 by parents of a Lowe syndrome child. The charity supports families and initiates and funds medical research into Lowe Syndrome. Lowe Syndrome is a genetic disorder that can occur with no family history, affecting boys and multiple physical and mental handicaps including cataracts in both eyes, muscle weakness (hypotonia or floppy baby syndrome), kidney problems, cysts, brittle bones, arthritis, poor growth, mental impairment with behaviour problems (autistic spectrum disorder) and epilepsy. Sadly the life expectancy for these children may be short due to the complications of the disease and the lack of funding to find a cure, however many also develop into adults and to defy any stereotypes.

The objective of the charity is to initiate, fund and encourage medical research which will hopefully lead to the development of drugs to better regulate the metabolic imbalance of Lowe’s and eventually a cure. The Charity is a listed non-commercial Partner of the National Institute for Health Research (NIHR). These are organisations that award research funds as a result of open competition across England with high quality peer review; fund research that is of clear value to the NHS; and take account of Department of Health and NHS priorities and needs in their research funding strategies. See http://www.nihr.ac.uk/.

The Trust advertises Requests for Research Proposals (RFP) in the UK with grants of up to £100,000, typically funding a research project over 3 years or more. See Research Grant Application form.

The research initiated and funded by the charity has been of high scientific quality and has brought together many researchers from different fields that would not have studied or collaborated on studies of this rare disease without the catalyst of the Lowe Syndrome Trust.  The charity has attracted serious science and scientists to try to understand what is a devastating disease for those affected by it, and their families.

What is sometimes not always appreciated outside of medical science and research is that research into one disease, especially a rare inherited disease, often reveals important insights into other diseases, and this has been particularly true of Lowe syndrome research. A ‘cure’ is still the ultimate objective, but many benefits have accrued from the research that has been funded up to now, not least in establishing a community of researchers working together and collaborating closely. The biennial scientific meetings (research symposia) organised by the Trust held at the Royal Society in London have provided an opportunity for the research funded by the rust to be presented at an open meeting and for new areas of research to be identified. Advances are being made, such that treatments to improve the lives of those affected by Lowe syndrome can and will be developed.

As of April 2021, The Lowe Syndrome Charity has funded many projects, in the UK, Europe and in the US. This funding has led to a protential cure for the kidney defects of Lowe Syndrome and Dent's disease using drug screening. The Gallop Lab has recently shown that breast cancer drug alpelisib restores kidney function in the mouse model of Lowe syndrome and Dent disease in a collaboration with the Devuyst lab at the University of Zurich. See Lowe charity news items 2021 Jenny Gallop Gurdon Institute, University of Cambridge & Zurich potenrtial breakthrough on treatment for Lowe Syndrome Kidney disorder.

In the initial Lowe Syndome Trust projects, Prof Robert Nussbaum who discovered the Lowe syndrome gene, created a mouse model to study the kidney aspects of the disease. Pietro De Camilli's lab at Yale University also made a mouse model to study the kidney in Lowe syndrome. Both mouse models, together with a zebrafish model generated by Martin Lowe at the University of Manchester, using Lowe Syndrome Trust funding, revealed how the defect in the Lowe gene causes the proteinuria seen in patients. Papers from the De Camilli and Lowe labs, together with Antonella De Matteis at the Telethon Institute in Naples, have also made significant inroads into understanding the cellular processes that are defective Lowe syndrome. The Nussbaum mouse model made through the charity funding is currently being used by a group led by Olivier Devuyst in Zurich, Switzerland, who replicated the earlier findings on proteinuria. The model has recently been used in a collaboration with Jenny Gallop of the Gurdon Institute at Cambridge to identify a potential breakthrough treatment for Lowe syndrome, as announced by Dr Gallop in 2021.

Martin and his team have distributed the zebrafish Lowe syndrome model to other labs around the world, so they can focus on other specific aspects of the disorder. This includes the lab of Scott Baraban at the University of California San Francisco (UCSF), who is an expert in studying seizures and epilepsy, and Dr Yang Sun at the Indian University School of Medicine, who is investigating how loss of OCRL1 causes cataracts and glaucoma. Martin will continue to distribute the fish to any labs that request them.

Other projects funded by the Trust have been at Imperial College London, University College London, Moorfield’s Eye Hospital, Dundee University, Cambridge University, Great Ormond Street Hospital, Royal Free Hospital, Institute of Child Health, Yale University (USA), University of California and Purdue University (USA).

The charity has raised awareness of Lowe syndrome and its scientific profile, and also helped with the wider recognition among doctors, the public, and our politicians, of other ‘rare diseases’.