Management of 6 teams within Rare Disease: Gastrohepatology, Haematology, Musculoskeletal, Respiratory, Neurology, Core WGS and Core Developmental Disorders. I have a special interest and expertise in variant classification both Hereditary Cancer and Rare Disease. I am co-lead of the Cancer Variant Interpretation Group (CanVIG) UK, ACGS representative for UK Cancer Genetics Group, GenQA SAG member, GTACT variant classification assessor & Cystic VCEP biocurator. I am 1st joint co-author of… Show more Management of 6 teams within Rare Disease: Gastrohepatology, Haematology, Musculoskeletal, Respiratory, Neurology, Core WGS and Core Developmental Disorders. I have a special interest and expertise in variant classification both Hereditary Cancer and Rare Disease. I am co-lead of the Cancer Variant Interpretation Group (CanVIG) UK, ACGS representative for UK Cancer Genetics Group, GenQA SAG member, GTACT variant classification assessor & Cystic VCEP biocurator. I am 1st joint co-author of the ACGS variant classification guidelines 2024 and EMQN Best Practice Guidelines for genomic testing in Hereditary Breast & Ovarian Cancer 2024 Show less

Lead Clinical Scientist within Rare Disease responsible for Hereditary Cancers, Gastrohepatology & Polycystic Kidney & Liver Disorders. Co-lead for Cancer variant interpretation group (CanVIG-UK). ACGS representative on UK Cancer Genetics Group council. Biocurator on ClinGen Cystic VCEP

Lead scientist for Hereditary Cancers, Pharmacogenetics and Lymphoid disease (including MRD monitoring for paediatric leukaemias) in Oncology. Special interest in renal cystic disease, particularly autosomal dominant polycystic kidney disease (ADPKD).

During this time I have been Head of service for Paediatric Molecular Oncology, then Head of service for Inborn Errors of Metabolism, then Head of Service of Hereditary Cancer then Head of Monitoring & Re-evaluation in Oncology (and Head of Autosomal Dominant Polycystic Kidney Disease service).

MPhil Molecular Genetics of Wilson disease