Zofia Miedzybrodzka

Professor Zofia Miedzybrodzka is Professor of Medical Genetics at the University of Aberdeen's School of Medicine, Medical Sciences and Nutrition, Honorary Consultant Clinical Geneticist, and Service Clinical Director of Genetics for NHS Grampian, overseeing the NHS Grampian Genomics & Molecular Pathology Laboratory and the North of Scotland Clinical Genetics Service.

Her educational background includes an MB ChB in Medicine and Surgery (1988) and a PhD in Clinical Medicine (1995), both from the University of Aberdeen, along with prestigious fellowships including FRCP Edin (2008) and FRCOG (2010).

• Genomics and genomic medicine implementation
• Huntington's disease epidemiology and clinical management
• Hereditary cancer prevention, particularly BRCA-related cancers
• Population genetics in Scottish founder populations (Orkney and Shetland)
• Clinical epidemiology and technology assessment in genetic medicine

Her recent publications demonstrate a strong focus on implementing genomic medicine in healthcare systems, with particular emphasis on population genetics in Scottish founder populations. Her work on BRCA1 variants in Orkney has gained international attention, and she has made significant contributions to understanding Huntington's disease prevalence in Northern Scotland. Her research consistently bridges basic science with health economics and policy implementation.

• Woman and Home Magazine 'Britain's most amazing women awards - Science Pioneer' 2023
• SPARKS research award for work on clubfoot
• Elected to Fellowship of Royal College of Physicians of Edinburgh (2007)
• FRCOG (2009)

Professor Miedzybrodzka has secured over 105 research grants totaling more than £17 million, with approximately £2.4 million currently active. She has served as principal investigator in interventional trials for genetic diseases including Huntington's disease and hereditary cancer prevention. Her leadership extends to chairing the Scottish genetics laboratories' consortium, where she drove the transition from small gene panels to exome and genome sequencing across NHS Scotland.

She leads multidisciplinary teams across 4 universities, 4 health boards, 4 clinics, and 4 NHS labs as part of the Scottish Genomes Partnership. Her work on the 100,000 Genomes Project delivered results to over 1,500 patients while rigorously evaluating whole genome sequencing in real-world clinical practice. She also established specialized support services for children and young people at risk of Huntington's disease, which has influenced healthcare practices worldwide.