Professor Zofia Miedzybrodzka
MB ChB, PhD, FRCP Edin, FRCOG
Personal Chair (Clinical)
Zosia Miedzybrodzka is Professor of Medical Genetics at the University of Aberdeen. She is also honorary consultant clinical geneticist and Service Clinical Director of Genetics for NHS Grampian (comprising Clinical Services and diagnostic DNA and cytogenetics laboratories), and co-director of the University of Aberdeen Centre for Genome-enabled Biology and Medicine.
Her areas of work place her on the interface between Clinical Practice and Research. her interests lie in the application of genetic techology to medicine. Current projects focus on genetic biomarkers for treatment response in gastro-oesophageal cancer, genetics and care in Huntington's disease, improving delivery of familial hypercholesterolaemia services. She is lead for NHS implementation within the Scottish Genomes Project. Currently she is Chair of the Scottish Clinical Genetics Forum and specialty adviser to the Chief Medical Officer for clinical genetics.
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Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in OrcadiansEuropean Journal of Human GeneticsContributions to Journals: Articles
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing: implications for future testingEuropean Journal of Human GeneticsContributions to Journals: Articles
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeBritish Journal of Dermatology, vol. 187, no. 6, pp. 948-961Contributions to Journals: Articles
Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genesAnnals of OncologyContributions to Journals: Articles
Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast CancerCancers, vol. 14, no. 13, 3175Contributions to Journals: Articles
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health serviceBritish Journal of CancerContributions to Journals: Articles
The known burden of Huntington disease in the north of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular eraJournal of Neurology, vol. 268, pp. 4170-4177Contributions to Journals: Articles
Huntington's disease: northern Scotland has one of the world's highest rates and rising sharply - here's whyThe ConversationContributions to Specialist Publications: Articles
Continuing the sequence?: Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in ScotlandJournal of Community GeneticsContributions to Journals: Articles
Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and FamiliesFrontiers in Genetics, vol. 12, 621683Contributions to Journals: Articles