Dr Alisdair McNeill


Department of Neuroscience

INSIGNEO Senior Clinical Research Fellow

Honorary Consultant in Clinical Genetics at the Sheffield Children's Hospital

+44 114 222 2267

Full contact details

Dr Alisdair McNeill
Department of Neuroscience
385a Glossop Road
S10 2HQ

I qualified MBChB (Hons) from Edinburgh University in 2004 and obtained the MRCP (UK) in 2007. I undertook Medical SHO training in Newcastle-upon-Tyne and Edinburgh, Clinical Genetics SpR training in the West Midlands and an MRC Clinical Research Training Fellowship at UCL.

Research interests

My research interest focuses on the genetic cause of neurological disorders, in children and adults. I am identifying new ways of phenotyping patients in order to improve diagnosis and disease monitoring.

For example, using patient wearable movement sensors (collaboration with INSIGNEO) in adults with neurological disorders and 3-dimensional facial image analysis (collaboration with Prof Peter Hammond, Oxford) in children with chromosome microdeletions.

I am also interested in studying variants of uncertain significance identified in clinical genetics testing, and resolving their pathogenicity through clinical phenotyping and in vitro studies.

Current Projects

  • Clinical research - Investigation of the ability of patient wearable accelerometers to monitor disease progression in neurological disorders. INSIGNEO collaboration.
  • Basic science – Investigating the role of deletions and mutations of SOX genes in human neurological and neurodevelopmental disorders.

Journal articles


Conference proceedings papers

  • Avenali M, Toffoli M, Mullin S, McNeill A, Hughes D, Mehta A, Blandini F & Schapira AH (2019) Evolution of prodromal parkinsonian features in a cohort of GBA mutation positive individuals: a 6-year longitudinal study.. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 26 (pp 147-147) RIS download Bibtex download
  • McNeill A, Hughes D, Mehta A & Schapira A (2012) Hyposmia and cognitive impairment in gaucher disease patients and carriers. JOURNAL OF MEDICAL GENETICS, Vol. 49 (pp S63-S63) RIS download Bibtex download
  • Aligianis I, Handley M, Carpanini S, Bern D, Yoshimura S, Nunes-Bastos R, Bond F, Kurian M, Rahman F, Hadzhiev Y , Pasha S et al (2011) Micro and Martsolf Syndromes. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S36-S36) RIS download Bibtex download



Funding Sources

  • Rosetrees Trust
  • Bailey-Thomas Charitable Fund
  • Royal College of Physicians of Edinburgh
  • Oakdale Trust
  • Sir Hailey-Stewart Trust