You're viewing an archived version of this project. Please visit the new Big Give site to find current fundraising campaigns.

Project information

Identifying Molecular Modifiers of Lowe Syndrome

Testing libraries of small molecules. known drugs and predicted drug-like small molecules, for their ability to reverse the effects of Lowe Syndrome in tissue culture cells and of the closely related Dent's Disease.

36 months

Charity information: The Lowe Syndrome Trust

The Lowe Syndrome Trust logo
  • Need


    OCRL1 is a protein that malfunctions in Lowe Syndrome. As the protein is
    malfunctioning, Lowe Syndrome patients suffer from several physical
    problems, including kidney and brain problems. The researchers have
    identified three aspects of cell function that depend on OCRL1. All three aspects have clear and measurable negative effects on cells in the body.


    The project will aim to test large numbers (initially 20,000) of molecules
    for their ability to reverse each of the three effects of lack of OCRL1 in
    tissue culture. Any compound that shows activity will be further
    investigated both by looking at analogues (out of a library of ~400,000
    compounds) for enhanced activity, and by examining the possible mechanisms of action on proteins that act in pathways associated with OCRL1. Thus, the project will develop a better understanding of LS.

  • Aims

    Aim 1

    Testing small molecules for their activity to reverse effects of Lowe Syndrome in tissue culture


    » Using a robot-driven microscope, which is available to the researchers at UCL’s MRC Laboratory of Molecular Cell Biology.

    What success will look like

    Success will be...determined by Lowe Syndrome Researchers

    Aim 2

    Investigating further the compounds that show activity


    » Looking both at analogues of that compound for enhanced activity, and examining the possible mechanisms of action among the known proteins.

    What success will look like

    Success will be...determined by Lowe Syndrome Researchers

  • Impact


    The project will develop both the basic and practical understanding of Lowe’s Syndrome.


    None Reported


    Researchers will be updating the Charity and hence donors via regular emails.

  • Budget

    Budget - Project Cost: £192,000

    Loading graph....
      Amount Heading Description
      £39,000 Consumables Consumables
      £18,000 Technical Access charges for screening platform
      £135,000 Salary Post Doctor Research fellow and supervisors
  • Background


    Laboratory at the UCL Institute of Ophthalmology Moorfields London.


    Lowe Syndrome Sufferers and families worldwide
    Dent's Disease sufferers and families worldwide
    Patients with OCRL1 problems worldwide
    Medical Researchers/Professionals worldwide

  • Why Us?

    Why Us?

    We are the only UK based charity that offers funding into medical research investigating Lowe Syndrome, education and support to the families and sufferers of the disease. We are also the main funders of the research into this disease worldwide.

    Read more about the Charity running this project.


    Dr Tim Levine