![Professor Zofia Miedzybrodzka Professor Zofia Miedzybrodzka](/img/200x200/staffpages/uploads/gen258/avatar/cN0dnJk0ksI7XfR3eJIyRsBxHJxn0VX6PZg6GSRF.jpeg)
MB ChB, PhD, FRCP Edin, FRCOG
Personal Chair (Clinical)
- About
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- Email Address
- zosia@abdn.ac.uk
- Telephone Number
- +44 (0)1224 552120
- Telephone Number
- +44 (0)1224 437931
- Office Address
- School/Department
- School of Medicine, Medical Sciences and Nutrition
Personal Assistant- Personal Assistant
- Miss Debbie Coutts
- Personal Assistant Email Address
- debbie.coutts@abdn.ac.uk
- Personal Assistant Telephone Number
- +44 (0)1224 437300
Biography
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.
Qualifications
- 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
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Centre for Genome-enabled Biology and Medicine
Institute of Medical Sciences
- External Memberships
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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.
- Research
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Research Overview
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.
- Publications
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Challenges in conducting a systematic review of the diagnostic accuracy of genetic tests: an example of the genetic diagnosis of familial hypercholesterolaemia
Cochrane ColloquiumContributions to Conferences: PostersDevelopment of the huntington disease work function scale
Journal of Occupational and Environmental Medicine, vol. 54, no. 10, pp. 1300-1308Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1097/JOM.0b013e31825f30ab
A nationwide screening programme for familial hypercholesterolaemia in Scotland using existing services
British Human Genetics Conference, pp. S115Contributions to Journals: AbstractsDepressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease
Neuropsychology, vol. 26, no. 5, pp. 664-669Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1037/a0029218
Fostering, adoption and Huntington's disease: improving clients' experience
Plenary Meeting of the European-Huntington's-Disease-Network (EHDN), pp. A50Contributions to Journals: Abstracts- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2012-303524.156
Prenatal diagnosis for Huntington's disease: a generation of testing
British Human Genetics Conference, pp. S69Contributions to Journals: AbstractsIs PATCHED an important candidate gene for neural tube defects?: Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report
Clinical Genetics, vol. 82, no. 1, pp. 71-76Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1111/j.1399-0004.2011.01725.x
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
PloS ONE, vol. 7, no. 6, e35706Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1371/journal.pone.0035706
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/3503/1/Breast_cancer_risk.pdf
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
British Journal of Cancer, vol. 106, no. 12, pp. 2016-2024Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/bjc.2012.160
8OHdG as a marker for Huntington disease progression
Neurobiology of Disease, vol. 46, no. 3, pp. 625-634Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/j.nbd.2012.02.012
Cognitive domains that predict time to diagnosis in prodromal Huntington disease
Journal of Neurology, Neurosurgery & Psychiatry, vol. 83, no. 6, pp. 612-619Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1136/jnnp-2011-301732
Re: Andrade NN, Raikwar K. Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of case
British Journal of Oral and Maxillofacial Surgery, vol. 50, no. 4, pp. e62Contributions to Journals: Letters- [ONLINE] DOI: https://doi.org/10.1016/j.bjoms.2011.10.005
Striatal volume contributes to the prediction of onset of Huntington disease in incident cases
Biological Psychiatry, vol. 71, no. 9, pp. 822-828Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/j.biopsych.2011.07.030
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Breast Cancer Research, vol. 14, no. 2, R63Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1186/bcr3169
Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations
Social Psychiatry and Psychiatric Epidemiology, vol. 36, no. 3, pp. 274-291Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/gepi.21620
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Human Mutation, vol. 33, no. 4, pp. 690-702Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/humu.22025
BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years
British Journal of Cancer, vol. 106, no. 6, pp. 1234-1238Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/bjc.2012.31
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Neurology, vol. 78, no. 10, pp. 690-695Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1212/WNL.0b013e318249f683
Elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia: a systematic review and economic evaluation
Health Technology Assessment, vol. 16, no. 17, pp. 1-266Contributions to Journals: Articles- [ONLINE] http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0041807/
- [ONLINE] DOI: https://doi.org/10.3310/hta16170
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstream/2164/2392/1/Sharma_2012.pdf
Gene-gene interactions in breast cancer susceptibility
Human Molecular Genetics, vol. 21, no. 4, pp. 958-962Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1093/hmg/ddr525
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Cancer Epidemiology, Biomarkers and Prevention, vol. 21, no. 1, pp. 134-147Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1158/1055-9965.EPI-11-0775
Discrepancies in reporting the CAG repeat lengths for Huntington's disease
EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 20, no. 1, pp. 20-26Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/ejhg.2011.136
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Human Molecular Genetics, vol. 20, no. 23, pp. 4732-4747Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1093/hmg/ddr388
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
Journal of Neurology, Neurosurgery & Psychiatry, vol. 82, no. 12, pp. 1409-1412Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1136/jnnp.2010.209668
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
Breast Cancer Research, vol. 13, no. 6, R110Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1186/bcr3052