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The Institute of Medical Sciences
Professor Zofia Miedzybrodzka
Professor Zofia Miedzybrodzka

Professor Zofia Miedzybrodzka

MB ChB, PhD, FRCP Edin, FRCOG

Personal Chair (Clinical)

About

Medical Genetics

Room 2:041
Polwarth Building
Foresterhill
Aberdeen
AB25 2ZD

Biography

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.

Publications

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  • Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians

    Kerr, S. M., Cowan, E., Klaric, L., Bell, C., O'Sullivan, D., Buchanan, D., Grzymsk, J. J., van Hout, C. V., Tzoneva, G., Shuldiner, A. R., Wilson, J. F., Miedzybrodzka, Z.
    European Journal of Human Genetics
    Contributions 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 testing

    Hocking, L., Andrews, C., Armstrong, C., Ansari, M., Baty, D., Berg, J., Bradley, T., Clark, C., Diamond, A., Doherty, J., Lampe, A., McGowan, R., Moore, D. J., O'Sullivan, D., Purvis, A., Santoyo-Lopez, J., Westwood, P., Abbott, M., Williams, N., Scottish Genomes Partnership, Aitman, T. J., Miedzybrodzka, Z.
    European Journal of Human Genetics
    Contributions to Journals: Articles

  • Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

    Liu, Y., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G. M., Kazanietz, M. G., Baker, M. J., Ferrazzano, C., Shi, C., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Fischer, J., Miedzybrodzka, Z., Abuzahra, F., Rübben, A., Cuvertino, S., Ellingford, J. M., Smith, M. J., Evans, D. G., Weppner-Parren, L. J. M. T., van Steensel, M. A. M., Chaudhary, I. H., Mangham, D. C., Lear, J. T., Paus, R., Frank, J., Newman, W. G., Zhang, X.
    British Journal of Dermatology, vol. 187, no. 6, pp. 948-961
    Contributions to Journals: Articles

  • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

    Loveday, C., Garrett, A., Law, P., Hanks, S., Poyastro-Pearson, E., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Walker, L., Eccles, D., Evans, D. G., Snape, K., Hanson, H., Houlston, R. S., Turnbull, C., Breast and Ovarian Cancer Susceptibility Collaboration
    Annals of Oncology
    Contributions to Journals: Articles

  • Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer

    McClurg, D. P., Urquhart, G., McGoldrick, T., Chatterji, S., Miedzybrodzka, Z., Speirs, V., Elsberger, B.
    Cancers, vol. 14, no. 13, 3175
    Contributions to Journals: Articles

  • Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

    Maher, E. R., Adlard, J., Barwell, J., Brady, A. F., Brennan, P., Cook, J., Crawford, G. S., Dabir, T., Davidson, R., Dyer, R., Harrison, R., Forde, C., Halliday, D., Hanson, H., Hay, E., Higgs, J., Jones, M., Lalloo, F., Miedzybrodzka, Z., Ong, K. R., Pelz, F., Ruddy, D., Snape, K., Whitworth, J., Sandford, R. N.
    British Journal of Cancer
    Contributions 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 era

    Kounidas, G., Cruickshank, H., Kastora, S., Sihlabela, S., Miedzybrodzka, Z.
    Journal of Neurology, vol. 268, pp. 4170-4177
    Contributions to Journals: Articles

  • Huntington's disease: northern Scotland has one of the world's highest rates and rising sharply - here's why

    Miedzybrodzka, Z.
    The Conversation
    Contributions to Specialist Publications: Articles

  • Continuing the sequence?: Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotland

    Abbott, M., McKenzie, L., Moran, B., Heidenreich, S., Hernández, R., Hocking- Mennie, L., Clark, C., Clark, C., Gomes, J., Lampe, A., Baty, D., McGowan, R., Miedzybrodzka, Z., Ryan, M.
    Journal of Community Genetics
    Contributions to Journals: Articles

  • Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families

    Tobias, A. P., Berg, J., Cetnarskyj, R., Miedzybrodzka, Z., Porteous, M. E., Tobias, E. S.
    Frontiers in Genetics, vol. 12, 621683
    Contributions to Journals: Articles
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