Identification of Disease Genes using Genome Sequencing, Functional Analysis, Clinical Characterisation and Genetic Modifiers of Spinocerebellar Ataxia

This project is funded by Ataxia UK, UCL and The Rosetrees Trust and aims to identify disease genes and genetic modifiers using exome and genome sequencing. In the identified disease genes the candidate will then characterise the patients and families clinically, with imaging and carry out functional work to understand the disease pathways further. This project would suit either a medically qualified fellow or a science graduate. They will be trained in neurogenetics and movement disorders. We work closely and frequently visit clinical and genetic collaborators in Pakistan, Bangladesh, Italy, Morocco, Jordan and the USA in the identification of families and the collaboration in a large synaptopathies project.
Environment: The fellows will be tightly integrated in our laboratory at the UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery under the supervision of Prof. Henry Houlden, Prof John Hardy and colleagues in the Department of Molecular Neuroscience and The MRC Centre for Neuromuscular diseases with Prof’s Reilly and Hanna. The fellow will have the opportunity to attend specialist clinics, be trained in movement disorders and neurogenetics, UCL courses in relevant areas, as well as to interact with students and postdoctoral researchers from other departments.
Ideal person specification
A medical degree (MD, MBBS or similar) obtained at an EU/UK or non-EU university.
A good degree (2.1 or above) in a biology/neuroscience subject (or equivalent EU/overseas degree), and in addition ideally an MSc in a related area.
Interested in neurological diseases in patients and translational research
Excellent experimental skills, preferably in cell or molecular genetics
Good analytical/mathematical skills, preferably with some knowledge of bioinformatics approaches.
Good communication skills - especially in written English.
A very strong work ethic, with the ability to think creatively and work within the team.
Duties and Responsibilities
Genetic analysis of families with neurological disorders
Identification of disease genes, genetic modifiers
Clinical characterisation of patients and families
Functional analysis of disease genes
Travel to collect blood and tissue and for clinical analysis as we collaborate widely throughout the world.
Work in collaboration with other researchers and prepare progress reports on research as required.
Prepare manuscripts for submission to peer-reviewed journals.
Prepare presentations, including text and images, for delivery by self and others.
Travel for training, collaboration and other meetings or conferences.
Contribute to the overall activities of the research team, department and be aware of UCL policies.
Informal enquiries
Please email Prof. Henry Houlden for further information about the projects ([Email Address Removed]).
Application procedures
Application is by CV and covering letter (including motivation for applying) emailed to [Email Address Removed]
Closing Date: 22nd May, 2017