Leukodystrophy: Natural history, clinical phenotype, biomarkers and collaboration with industry on NKX6.2 leukodystrophy gene therapy.
UCL Institute of Neurology, Queen Square, London WC1N 3BG.
Supervisors: Prof Henry Houlden, Dr Viorica Chelban and Prof John Hardy.
Email: [Email Address Removed]
Department of Neuromuscular Diseases and Neurodegenerative Disorders, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG
Project Description
Leukodystrophies are neurodegenerative disorders usually with a genetic aetiology. Recently, we identified bi-allelic mutations in the NKX6.2 gene that cause autosomal recessive spastic ataxia and leukodystrophy. Since this gene was identified we have extended our analysis of the clinical phenotypes in a large number of individuals and families with NKX6.2 mutations from around the world. We know very little about the natural history of NKX6.2 leukodystrophy and how this disorder progresses and the complications. There is currently no disease modifying treatment, clinical or wet biomarkers for NKX6.2 patients and other leukodystrophies, only supportive care available. Therefore, in this proposal we plan to extend our genomic analysis to identify further NKX6.2 patients in the 100,000 genomes, UCL rare diseases project and other leukodystrophy patients with collection, characterisation and sequencing, to characterise and find greater numbers of NKX6.2 patients as there are many NKX6.2 leukodystrophy lookalikes that are yet to be analysed. We will also carry out a longitudinal natural history study to evaluate and understand disease progression in NKX6.2, taking serial biosamples, clinical features, MRI scan changes and identify serial biomarkers to inform trials.
We will work with industry collaborators as the NKX6.2 natural history project progresses to share biomaterials/biosamples and cell fibroblast samples to accelerate the development of gene therapy and gene transfer methods in patients with NKX6.2 related leukodystrophy.
We expect the candidate to carry out a PhD during this 3 year proposal.
Duration: 3 year studentship, Stipend £18,000 per year with UK PhD fees.
Academic supervisors: Prof. Henry Houlden (UCL), Dr Viorica Chelban (UCL), Prof. John Hardy (UCL)
Entry Requirements
The successful candidate will be a highly motivated individual who can work both independently and as part of a team. Applicants must hold a biological or medical degree or a related subject as or candidates should have (or expect to achieve) a minimum of a 2.2 Honours BSc degree or MD or MSc.
Please email Viorica Chelban and Henry Houlden if interested to apply with your CV: [Email Address Removed] and [Email Address Removed]
Closing date for applications: 16th May
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