PhD Studentship, focussed on spastic ataxia and hypomyelinating leukodystrophy

We have an exciting opportunity for a three year PhD in neurogenetics focussed on spastic ataxia and hypomyelinating leukodystrophy.

Project Description

Recently, our lab identified bi-allelic mutations in the NKX6.2 gene that cause autosomal recessive spastic ataxia and hypomyelinating leukodystrophy. In addition to this we have identified a number of genetic causes of other leukodystrophies. Since these genes were identified we have extended our analysis of the clinical phenotypes in a large number of individuals and families with mutations from around the world. There is currently no disease modifying treatment, clinical or wet biomarkers for NKX6.2 patients and other leukodystrophies, only supportive care available.

In this project, the successful candidate will work to identify patients with NKX6.2 and other related leukodystrophy defective genes through our extensive collaborators network, carry out a longitudinal natural history study to evaluate and understand the disease progression and identify serial biomarkers to inform trials. This will be combined with developing methods to replace and rescue the loss of leukodystrophy genes such as the NKX6.2 protein, through gene transfer methods in patient fibroblasts and then in iPSC differentiated lines.

The Department of Neuromuscular Diseases at the UCL Queen Square Institute of Neurology offers a stimulating scientific environment with over 65 PhD students and postdocs as well as extended computing and lab resources.

Duration

3 years, starting from 25th April 2022.

Academic supervisors

Prof. Henry Houlden (UCL), Dr Viorica Chelban (UCL) and Prof. John Hardy (UCL)

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 degree in Medicine or Biology or Biochemistry or a related subject as MD, MBBS, BSc, MSc. Candidates should have (or expect to achieve) a minimum of a 2.2 Honours degree or MD or MSc.
• Lab skills such as Western blotting, PCR and cell work are desirable.

Funding Notes

This project is funded by Ataxia UK with a 3-year UCL PhD stipend in line with Research Councils UK https://www.ucl.ac.uk/scholarships/graduate-research-scholarships

Includes full time tuition fees at the UK fee rate.

Please send your application with a CV to Dr. Viorica Chelban at [email protected]

and Prof Henry Houlden at [email protected] by 21st January 2022.