Dr Alisdair McNeill


Neuroscience, School of Medicine and Population Health

Senior Clinical Lecturer in Neurogenetics

Honorary Consultant in Clinical Genetics, Sheffield Children’s Hospital NHS Foundation Trust

Editor-in-Chief of the European Journal of Human Genetics

Alisdair McNeill portrait photo
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+44 114 222 2267

Full contact details

Dr Alisdair McNeill
Neuroscience, School of Medicine and Population Health
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
S10 2HQ

Dr McNeill is a Senior Clinical Lecturer in Neurogenetics (Division of Neuroscience) and Honorary Consultant in Clinical Genetics at Sheffield Children’s Hospital NHS Foundation Trust.  Dr McNeill obtained a 1st Class BMedSci (Experimental Pathology, 2001) and MBChB (with Honours, 2004) from the University of Edinburgh. As an undergraduate Dr McNeill was supported by a scholarship from the Dr Robert Malcom Trust (to support students from former mining towns).  Dr McNeill trained in general medicine in Newcastle-Upon-Tyne and Edinburgh before undertaking an NIHR Academic Clinical Fellowship in Clinical Genetics in the West Midlands.  Dr McNeill was awarded an MRC Clinical Training Fellowship (personal award) at UCL (PhD, 2013) and obtained a CCT in Clinical Genetics in 2015.

Research interests

Research programme: improving the clinical utility and accessibility of neurogenetic testing

The goal of Dr McNeill’s research is to make neurogenetic testing (more) clinically useful, and accessible to all who wish to use it.  Through the following projects:

  1. Deep phenotyping of speech and language abilities in children with rare genetic conditions. Along with Dr Megan Freeth, Professor Matthews and Professor Fricke we have developed an online protocol to comprehensively characterise speech and communication abilities in children with rare neurodevelopmental conditions.  This has demonstrated distinct patterns of communicative ability in different genetic neurodevelopmental conditions.  This information will help with educational and clinical management of these children.  The findings also improve the clinical utility of a genomic test result by delineating the range of communicative behaviours associated with given conditions. 
  2. Developing resources to support mainstreaming of genome sequencing in adult neurology. Along with Professor Christopher McDermott and Professor Hilary Bekker we are undertaking a mixed methods study to identify the support needs of motor neuron disease patients considering genome sequencing.  The  findings will be used  to develop a complex intervention (likely a patient decision aid) to support MND genome sequencing discussions in mainstream neurology clinics.  
  3. Using exome sequencing in adults with rare conditions.  Exome and genome sequencing is well established as an effective diagnostic tool for children with rare conditions.  There is less evidence about the diagnostic value of exome sequencing in adults with rare conditions.  In a commercial partnership with 3billion.io, Dr McNeill is investigating the value of exome sequencing in adults with rare conditions who have negative gene panel tests.  The findings will guide genomic testing strategies in adults with rare conditions.   

Journal articles


Conference proceedings papers

  • 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


Research group

EJHG Editorial Assistant

  • Dr Shona Kirk PhD

Sheffield Children’s Hospital clinical genetics research team

  • Pauline Bayliss (research sister)

Post-doctoral research associates

  • Dr Jade Howard PhD
  • Dr Harriet Smith PhD

PhD Students (Primary supervisor)

  • Shanice Allen (2023-)
  • Mosab Alsaedi (2022-)
  • Tarub Binashalan (2020 -)
  • Louis Stokes (2020-2023)
  • Katharina Vogt (2017-2020)
  • Ellen Buckley (2017-202)
  • MND Scotland. Reproductive options in familial MND. 2023. £75 000. PI.
  • Rosetrees trust.  Hypogonadism in neurodevelopmental conditions. c.£250 000. Co-I. 
  • MND Association. Developing a decision support aid for genomic testing in MND. 2021. £169 000. PI. 
  • Bailey Thomas Charitable Foundation.  Speech and communication abilities in rare genetic conditions.  2021. £69 000.  PI.  
  • European Society of Human Genetics.  European Journal of Human Genetics Editorial office. 2020 -.  c£200 000. PI.  
  • National Eye Research Centre.  Reproductive medicine options in genetic eye conditions. 2019. £10 000. PI.  
  • BDF Newlife.  Investigating MYT1L as a novel neurodevelopmental condition gene. 2016. £15 000. PI. 
  • Sir Halley Stewart Trust.  Creating a clinical outcome assessment for Wolf-Hirshorn syndrome. 2016. £50 000. PI. 
Teaching activities

Dr McNeill has a strong commitment to medical education, especially to equipping clinicians with skills in genomic diagnostics. 

MBChB (Undergraduate) 

Dr McNeill leads on delivering clinical genetics teaching on the Sheffield MBChB, in both the Year 1 Introduction to Medical Sciences week and clinical paediatric rotations.  Dr McNeill is a member of the core MBChB student support team acting as an Associate Director of Student Affairs, with a focus on intercalation/academic training, and is a PATS tutor on the MBChB and widening participation MBChB course.  

Msc Clinical Neurology (Postgraduate)   

Dr McNeill leads the research module.  This provides students with a comprehensive introduction to research in clinical neurosciences.   

Professional activities and memberships
  • Dr McNeill is Editor-in-Chief of the European Journal of Human Genetics (2020-)(https://www.nature.com/ejhg/).  During his tenure, the performance of the journal, as judged by citescore and impact factor, has risen.  The European Journal of Human Genetics is now ranked 30th out of 173 journals in “Genetics and Heredity”, this is the journal’s highest ever ranking.  
  • Dr McNeill is clinical research lead for clinical genetics at Sheffield Children’s Hospital and NIHR Specialty Research Lead for genetics in Sheffield.  Dr McNeill ensures appropriate studies are open to recruitment to provide equitable access to research projects for potential participants.  
  • Dr McNeill is the British Medical Association university representative on the Sheffield Children’s Hospital Local Negotiating Committee.  Dr McNeill is increasingly concerned about the unsustainable demands being placed on consultant clinical academics.  
  • Dr McNeill sits on the British Society of Genomic Medicine ethics and policy committee, with a focus on ethical aspects of genetic testing in adult neurological conditions.  Dr McNeill is a liaison member of the European Society of Human Genetics board.