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Miranda Durkie
Consultant Clinical Scientist, Rare Disease Lead,
North East Yorkshire Genomic Laboratory Hub
Miranda Durkie is a Consultant Clinical Scientist and Rare Disease Lead Scientist in Genomics at the North East and Yorkshire Genomic Laboratory Hub, based at Sheffield Children’s NHS Foundation Trust. She is an HCPC-registered Clinical Scientist with FRCPath and has over two decades of experience in clinical genomics, specialising in rare disease diagnostics including variant classification.
Miranda leads rare disease services across three regional sites and contributes nationally playing a key role in shaping best practice guidelines, multiple EQA schemes and through her role with the NHS Rare and Inherited Disease Genomic Network of Excellence. She is scientific co-lead of the Cancer Variant Interpretation Group UK (CanVIG) Steering and Advisory Group (CSTAG), member of ClinGen Variant Curation Expert Panels (VCEP) and member of ClinGen Variant Classification Working Group.
Miranda leads rare disease services across three regional sites and contributes nationally playing a key role in shaping best practice guidelines, multiple EQA schemes and through her role with the NHS Rare and Inherited Disease Genomic Network of Excellence. She is scientific co-lead of the Cancer Variant Interpretation Group UK (CanVIG) Steering and Advisory Group (CSTAG), member of ClinGen Variant Curation Expert Panels (VCEP) and member of ClinGen Variant Classification Working Group.