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Dr Alisdair McNeill

Variant Discovery and Clinical Interpretation co-lead

Dr Alisdair 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.  The goal of Dr McNeill’s research is to make neurogenomic testing (more) clinically useful, and accessible to all who wish to use it.  This includes work with mainstream neurology colleagues to develop resources to support patient decision making around genomic testing and pathways to support mainstream genomic testing.  Dr McNeill also utilises re-analysis of clinically generated exome and genome data to support identification and characterisation of rare genetic conditions affecting the nervous system.  Dr McNeill is the current Editor in Chief of the European Journal of Human Genetics and will now co-lead the  Variant Discovery and Clinical Interpretation community, which seeks to expedite rare disease diagnosis through genomic research.

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