Miranda Durkie

Miranda graduated from The University of Sheffield in 1996 with a BSc Honours in Molecular Biology. During that time Miranda did work experience in the Sheffield Diagnostic Genetics Service and went on to win the Alan Roper prize for her final project dissertation based at Sheffield Diagnostic Genetics Service (SDGS).

After graduating, Miranda worked at SDGS setting up the first diagnostic for Wilson disease, gaining an MPhil degree. After working at the Salisbury Regional Genetics Laboratory, Miranda then re-joined SDGS to set up the paediatric molecular oncology service and embark on her career as an NHS Clinical Scientist in Genetics. She has worked across many genetic services including molecular oncology, pharmacogenetics, inborn errors of metabolism, prenatal, polycystic kidney and liver diseases, hereditary cancers and gastrohepatology. Miranda was previously lead clinical scientist for Rare Disease at SDGS including 5 specialist services: Haematology, Gastrohepatology, Musculoskeletal, Respiratory and Neurology, plus all core testing. She is now a Consultant Clinical Scientist and Rare Disease Lead for the North East Yorkshire Genomic Laboratory Hub, including services provided by Newcastle, Leeds and Sheffield.

Miranda attained HCPC registration in 2005, FRCPath part 1 in 2010 and FRCPath part 2 in 2019.

Miranda is the scientist co-lead for the Cancer Variant Interpretation Group (CanVIG-UK) steering and advisory group (2018-present), joint first co-author of ACGS 2024 variant classification guidelines, joint first co-author of EMQN Hereditary Breast and Ovarian Cancer genetic testing best practice guidelines 2024, Generation Study Interpretation and Reporting Working Group member (2023-present), has been an expert assessor for 6 EQA schemes (EMQN & GenQA), GenQA SAG member (2020-2024) and is a member of 2 ClinGen Variant Curation Expert Panels (cystic kidney disease and APC) and was ACGS representative for UKCGG (2020-2024).

Miranda works one day per week for the NHS rare and inherited disease genomic network of excellence with the overarching objective to develop and deliver a sustainable network to accelerate delivery of the clinical and diagnostic ambitions of the Rare Diseases Action Plans and UK Rare Diseases Framework for all NHS patients and families affected by rare genetic conditions.

Miranda’s publication history: https://scholar.google.com/citations?user=aqu-_t4AAAAJ&hl=en&inst=5954513216110423613&oi=ao