3.5 million patients have rare genetic diseases in the UK. Studies of monogenic diseases are indispensable to elucidate gene function and to understand complex multifactorial disorders. We are a team of researchers with expertise in childhood white matter diseases, also called leukodystrophies. Patients suffer from severe neurological impairments, with death often occurring during infancy as there are currently no treatments for these devastating monogenic childhood brain disorders.
Leukodystrophy research is under-represented in the UK, mainly consisting of a clinical hub in Leeds, processing patient diagnostics and samples, and isolated research groups focused on specific types of leukodystrophies across the country. A more cohesive and united approach in leukodystrophy research will bring together our national experts and allow rapid and efficient progress towards therapeutic interventions.
LEUKOLABS.UK will be the first leukodystrophy network in the UK to assemble clinical and non-clinical researchers and share knowledge, expertise, data and models to accelerate our understanding and therapeutic advances of leukodystrophies.
- Set up LEUKOLABS.UK. During the funding period, we will set up the collaboration, prioritise experiments for our first collaborative publication to validate our translational pipeline of innovative models for a novel leukodystrophy and plan funding applications for 2022 using a series of meetings in each other’s institutions.
- Expand our network to promote leukodystrophy research and inspire young researchers to join the fight against these devastating diseases.
- Secure large collaborative and multi-centre grant funding from the Wellcome Trust and medical charities to become the first leukodystrophy research centre in the UK. To support our funding bids, we will co-author a manuscript describing the clinical manifestations in patients affected by a novel leukodystrophy discovered by the Leeds team, combined with our functional analysis in 3 complimentary models: Brain organoids (Poulter), flies (Sweeney) and zebrafish (Hamilton). This will demonstrate the suitability of our multi-model approach to understand new leukodystrophies and test therapies.
Lead Academic at Lead Institution:
Dr Noémie Hamilton (ECR) Infection, Immunity and cardiovascular disease department, The Bateson Centre, The Sheffield Neuroscience Institute, University of Sheffield
Lead Academics at other two universities:
Dr James Poulter (ECR), Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds
Dr Sean Sweeney, Department of Biology, Neuroscience, University of York
Dr Andrew Grierson, Sheffield Institute for Translational Neuroscience, The Sheffield Neuroscience Institute,
Dr Michael Plevin, Department of Biology, Biochemistry,
Professor Eamonn Sheridan, Division of Molecular Medicine, Leeds Institute of Medical Research,
Prof John Livingston, Consultant Paediatric Neurologist. Lead for White Matter Disorders (LeedsChildren’s Hospital) and the National PaediatricInherited White Matter Disease Network.