Dr James Poulter

Profile

I am Associate Professor of Genomic Medicine, with an interest in genetic neurodevelopmental disorders. I use a range of start of the art techniques ranging from Next Generation Sequencing, CRISPR-Cas9 gene editing, stem cell differentiation to structural analyses to study the effects of mutations on the function of the encoded protein. Where possible, using these models, we undertake preclinical testing of candidate molecules with an aim to identify therapies suitable for patients with rare disorders. In particular, I am interested in brain growth disorders and disorders caused by a failure of myelin formation or maitenance. I co-lead Leukolabs.UK and have strong collaborations with the Universities of York, Sheffield and the Astbury Centre for Structural and Molecular Biology (University of Leeds). I sit on the Executive Committee of the Leeds Centre for Disease Modelling and I am the Institute lead for Post-Doc and Early Career Researchers.

Professional activities

STEM Ambassador (2015 – present)

Editorial Board Member for ‘The Biologist’ (Royal Society of Biology)

Studentships

Competitive fully funded PhD scholarships are available within the Faculty Graduate School. Self-funded students are always welcomed to apply for postgraduate study. International students must meet the entry requirements for English. Bench fees are required. Please email J.A.Poulter@leeds.ac.uk for informal enquiries.

Responsibilities

• LIMR Lead for Post-Doc and Early Career Researchers
• Leeds Centre for Disease Models Executive Committee Member

Research interests

The development of the human brain is a highly orchestrated event, requiring a precise series of molecular events to occur at the correct time and location. The mTOR signalling pathway is one of the pathways responsible for orchestrating early brain development, in particular, the cerebral cortex. A failure of this pathway leads to the PIK3CA-related overgrowth syndromes (PROS), which encompass a range of disorders, that are characterised by over-activation of the mTOR signalling pathway. Using a range of techniques including CRISPR/Cas9 and the growth of brain organoid models, I create and characterise models of these disorders in order to better understand neurodevelopment and use them to identify and undertake pre-clinical testing of candidate therapeutics.

Furthermore, in collaboration with the Astbury Centre for Structural and Molecular Biology, we produce purified proteins of interest to model the effect of mutations on their biophysical stability and their ability to function. As well as functional studies, we use whole exome sequencing to identify mutations in families with neurodevelopmental disorders which are then assessed for pathogenicity using biochemical and cellular assays.

Qualifications

• PhD
• BSc (Hons)

Professional memberships

• The Royal Society of Biology (MRSB)
• The British Neuroscience Association
• The European Neuroscience Association
• Tuberous Sclerosis Association

Student education

Genetics in Medicine (MBChB, Year 2)

Human Molecular Genetics (MSc, Molecular Medicine)

Research Informatics and Dissemination (MSc, Molecular Medicine)

Research groups and institutes

• Leeds Institute of Medical Research at St James's
• Rare Diseases & Genetics
• Molecular Genetics Research Group