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The Institute of Medical Sciences

Professor Zofia Miedzybrodzka

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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  • 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

  • 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

  • Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas

    Corso, S., Pietrantonio, F., Apicella, M., Migliore, C., Conticelli, D., Petrelli, A., D'Errico, L., Durando, S., Moya-Rull, D., Bellomo, S. E., Ughetto, S., Degiuli, M., Reddavid, R., Fumagalli, U., De Pascale, S., Sgroi, G., Rausa, E., Baiocchi, G. L., Molfino, S., De Manzoni, G., Bencivenga, M., Siena, S., Sartore-Bianchi, A., Morano, F., Corallo, S., Prisciandaro, M., Di Bartolomeo, M., Gloghini, A., Marsoni, S., Sottile, A., Sapino, A., Marchio, C., Dahle-Smith, A., Miedzybrodzka, Z., Lee, J., Ali, S. M., Ross, J. S., Alexander, B. M., Miller, V. A., Petty, R., Schrock, A. B., Giordano, S.
    Clinical Cancer Research, vol. 27, no. 11, pp. 3126-3140
    Contributions to Journals: Articles

  • A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    GEMO Study Collaborators, EMBRACE Collaborators, Gehrig, A., Georgoulias, V., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D., González-Neira, A., Greene, M. H., Guénel, P., Haeberle, L., Gregory, H., Miedzybrodzka, Z.
    Nature Communications, vol. 12, no. 1, 1078
    Contributions to Journals: Articles

  • Interactions between anti-EGFR therapies and cytotoxic chemotherapy in oesophageal squamous cell carcinoma: why clinical trials might have failed and how they could succeed

    Meemanage, M., Spender, L. C., Collinson, D., Iannetta, J., Challapalli, P., Turbitt, J., Clark, C., Baxter, M., Murray, G., Walsh, S., Miedzybrodzka, Z., Petty, R. D.
    Cancer Chemotherapy and Pharmacology, vol. 87, pp. 361–377
    Contributions to Journals: Articles

  • Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

    Steinthorsdottir, V., McGinnis, R., Williams, N. O., Stefansdottir, L., Thorleifsson, G., Shooter, S., Fadista, J., Sigurdsson, J. K., Auro, K. M., Berezina, G., Borges, M. C., Bumpstead, S., Bybjerg-Grauholm, J., Colgiu, I., Dolby, V. A., Dudbridge, F., Engel, S. M., Franklin, C. S., Frigge, M. L., Frisbaek, Y., Geirsson, R. T., Geller, F., Gretarsdottir, S., Gudbjartsson, D. F., Harmon, Q., Hougaard, D. M., Hegay, T., Helgadottir, A., Hjartardottir, S., Jääskeläinen, T., Johannsdottir, H., Jonsdottir, I., Juliusdottir, T., Kalsheker, N., Kasimov, A., Kemp, J. P., Kivinen, K., Klungsøyr, K., Lee, W. K., Melbye, M., Miedzybrodska, Z., Moffett, A., Najmutdinova, D., Nishanova, F., Olafsdottir, T., Perola, M., Pipkin, F. B., Poston, L., Prescott, G., Saevarsdottir, S., Salimbayeva, D., Scaife, P. J., Skotte, L., Staines-Urias, E., Stefansson, O. A., Sørensen, K. M., Vestrheim Thomsen, L. C., Tragante, V., Trogstad, L., Simpson, N. A. B., FINNPEC Consortium, GOPEC Consortium, Aripova, T., Casas, J. P., Dominiczak, A., Walker, J. J., Thorsteinsdottir, U., Iversen, A., Feenstra, B., Lawlor, D. A., Boyd, H. A., Magnus, P., Laivuori, H., Zakhidova, N., Svyatova, G., Stefansson, K., Morgan, L.
    Nature Communications, vol. 11, no. 1, 5976
    Contributions to Journals: Articles

  • Young-onset colorectal cancer in the North East of Scotland: survival, clinico- pathological features and genetics

    Perrott, S., Laurie, K., Laws, K., Johnes, A., Miedzybrodzka, Z., Samuel, L.
    BMC Cancer, vol. 20, 108
    Contributions to Journals: Articles

  • Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic

    Keenan, K. F., McKee, L., Miedzybrodzka, Z.
    Journal of genetic counseling, vol. 29, no. 1, pp. 44-55
    Contributions to Journals: Articles

  • Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners

    Quarrell, O. W., Delatycki, M. B., Clarke, A. J., Lahiri, N., Craufurd, D., Miedzybrodzka, Z., MacLeod, R., Renwick, P., Tomlinson, C.
    Journal of Huntington's disease, vol. 8, no. 3, pp. 357-359
    Contributions to Journals: Letters
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