MB ChB, PhD, FRCP Edin, FRCOG
Personal Chair (Clinical)
- Email Address
- Telephone Number
- +44 (0)1224 552120
- Telephone Number
- +44 (0)1224 437931
- Office Address
Clinical Genetics Centre, Ashgrove House Aberdeen Royal Infirmary
- School of Medicine, Medical Sciences and Nutrition
Zosia Miedzybrodzka studied medicine and trained as a clinical researcher and specialist genetics doctor at University of Aberdeen and with the NHS Grampian in the North of Scotland.
She uses the roles of service clinical director of NHS laboratory and clinical genetics in the north of Scotland, and honorary consultant clinical geneticist to deliver high quality impactful research in gene discovery, characterisation, clinical epidemiology and rigorous technology assessment. Her work is highly collaborative both locally, nationally and internationally and she has particular interests in evaluation of genomics, Huntington’s disease (HD) and prevention in hereditary cancer.
As chair of the Scottish genetics laboratories’ consortium she led NHS Scotland from testing for small panels of genes to exomes, with widespread cancer testing and beginnings of pharmacogenomics in everyday clinical practice and she led the NHS Scotland in 100,000 genomes project.
Recently her work on a breast and ovarian cancer gene, BRCA1, in Orkney came to public attention, leading to Woman and Home Magazine celebrating her as “Britain’s most amazing woman- Science Pioneer” for 2023.
- PhD Clinical Medicine1995 - University of Aberdeen
- MB ChB Medicine and Surgery1988 - University of Aberdeen
- FRCP Edin Fellowship of Royal College of Physicians of Edinburgh2008 - Royal College of Physicians of Edinburgh
- FRCOG Obstetrics and Gynaecology2010 - Royal of Obstetricians and Gynaecologists
Memberships and Affiliations
- Internal Memberships
Centre for Genome-enabled Biology and Medicine
Institute of Medical Sciences
- External Memberships
Service Clinical Director- Genetics & Honorary Consultant Clinical Geneticist NHS Grampian
Member: Scotland's rare disease strategy implementation board, RCP / RCPath Joint Committee for Genomics medicine, Association of Medical Royal Colleges Genomics professional partnerships board, Steering group Scottish Strategic Network for Genomic Medicine.
Prizes and Awards
Woman and Home Magazine “Britain’s most amazing women awards- Science Pioneer” 2023.
Professor of Medical Genetics, University of Aberdeen
Honorary Consultant Clinical Geneticist, NHS Grampian
Service Clinical Director- Genetics, NHS Grampian
(NHS Grampian Genomics & Molecular Pathology Laboratory & North of Scotland Clinical Genetics Service)
Woman & Home Magazine “Britain’s Most Amazing Women Awards” – Science Pioneer 2023
Zosia Miedzybrodzka studied medicine at University of Aberdeen, graduating with commendation as best female student in 1988. Following basic medical training, she was awarded the prestigious Scottish Hospitals Endowments Research Trust Cruden research scholarship for 1990, then a three-year Wellcome grant during which she completed her University of Aberdeen PhD bringing genetics laboratory science, health services research and health economics to a randomised trial of approaches to population-based antenatal carrier screening for cystic fibrosis (CF). The programme not only established PCR based multiplex direct mutation testing in the Aberdeen NHS genetics laboratory, documented mutation frequencies in CF in northern Scotland, but also was also one of the first exemplars of the use of willingness to pay as a quantitative value-based measure of healthcare intervention which is now widespread in health technology assessment.
Zosia gained entry to higher specialist training in clinical genetics through MRCOG and was appointed clinical lecturer at University of Aberdeen in 1998. Appointed senior lecturer and honorary consultant clinical geneticist through promotion she developed her research interests leading clinical epidemiology projects in haemochromatosis, pre-eclampsia, aetiology of clubfoot and description of riboflavin responsive multiple acyl co-A dehydrogenase, including the well cited implication of ETFDH as a major causative gene.
Since 2004, she has used the roles of service clinical director of NHS laboratory and clinical genetics in the north of Scotland, and honorary consultant clinical geneticist to deliver high quality impactful research in gene discovery, characterisation, clinical epidemiology and rigorous technology assessment. Her work is highly collaborative both locally, nationally and internationally.
She is an author on 176 peer-reviewed publications, h-index is 43, with 8496 citations despite much of her work being in individually rare diseases. She has been holder / co-holder of more than 105 research grants totally >£17,358,540, of which £2,394,356 are current.
Highlights of her work have been discovery of new mechanism for autism- deregulation of EIF4E, documentation of UK patterns of prenatal diagnosis and pre-implantation genetic diagnosis over 27 years, evaluation of clinical approaches to risk stratification in familial cancer, genetic basis of primary familial basal cell calcification, Bazex-Dupre-Christol syndrome, discovery of EGFR copy number as a biomarker for response to gefitinib in oesophageal cancer (guideline recommendation). Furthermore, Zosia is one of few UK clinical geneticists to act as a principal investigator in interventional trials in genetic disease including Huntington’s disease (HD) and prevention in hereditary cancer.
Beyond research, as chair of the Scottish clinical genetics forum and genetics laboratory consortium she led NHS Scotland from testing for small panels of genes to exomes and genomes, with widespread cancer testing and beginnings of pharmacogenomics in everyday clinical practice, with testing rate 25% ahead of other UK nations prior to dissolution of UK genetic testing network.
In 2007 she won the SPARKS research award for her work on clubfoot, and professional recognition of her research and clinical practice was recognised through election to Fellowship of Royal College of Physicians of Edinburgh as a non-membership candidate in 2007, with FRCOG in 2009.
The three key impacts she is most proud of are:
- Services for Young People at risk of Huntington’s disease
Zosia’s team first described the devasting impact of growing up in a family with HD upon children and young people and demonstrated the need for specialised, age-appropriate education and support services. The work informed the development of new support services and educational materials for children and young people in Scotland and around the world, influencing the practice and training of healthcare professionals worldwide.
- Chief Investigator NHS Scotland in 100,000 Genomes-
Within the umbrella of Scottish genomes partnership, Zosia led 4 universities, 4 health boards, 4 clinics, 4 NHS labs, University sequencing provider and IT infrastructure to work with Genomics England and NHS Scotland National Services Division to deliver a real-world rigorous evaluation of whole genome sequencing, giving results to >1500 patients, informing Scottish genomic policy.
- Orkney BRCA1 gene variant-
Zosia recognised and documented a founder BRCA1 variant in her Orkney clinic. She worked with Jim Wilson and the ORCADES cohort to describe the population-based frequency of the first founder BRCA variant documented in a UK population, which arose in the remote isle of Westray in 1600s. She is now leading a pilot of population-based screening for the variant starting 3/7/23.
The publication of these findings in European Journal of Human Genetics drew worldwide media attention with >1.5 million BBC website hits overnight, two days of headline national news coverage, and was spread by 16 TV channels and 122 news outlets. Altmetric records the impact as already being the second most impactful paper ever in the journal. Testing for the variant has been proposed or those with Westray grandparents as standard of care in NHS Scotland and NHS England.
This work led to Woman and Home Magazine recognising her “Britain’s most amazing woman- Science Pioneer” for 2023.
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Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysisHealth technology assessment (Winchester, England), vol. 27, no. 16, pp. 1-140Contributions to Journals: Articles
VIKING II, a worldwide observational cohort of volunteers with northern isles ancestryInternational Journal of Population Data Science, vol. 8, no. 1, 2121Contributions to Journals: Articles
Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in OrcadiansEuropean Journal of Human Genetics, vol. 31, pp. 588-595Contributions to Journals: Articles
Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome: Causes, Clinical Presentation, and Therapeutic OptionsMetabolites, vol. 13, no. 5, 621Contributions 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 Genetics, vol. 31, no. 2, pp. 231-238Contributions to Journals: Articles
Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic reviewJournal of Community Genetics, vol. 14, no. 1, pp. 5-15Contributions 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 Oncology, vol. 33, no. 12, pp. 1318-1327Contributions to Journals: Articles
Feasibility and ethics of using data from the Scottish newborn blood spot archive for researchCommunications Medicine, vol. 2, 126Contributions to Journals: Articles
Continuing the sequence?: Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in ScotlandJournal of Community Genetics, vol. 13, pp. 487-501Contributions to Journals: Articles