NHS Grampian and University of Aberdeen medical geneticist recognised in New Year’s Honours

The contributions of Zosia Miedzybrodzka, Service Clinical Director of Genetics at NHS Grampian and Professor of Medical Genetics at University of Aberdeen, have been recognised in the New Year’s Honours.

Professor Miedzybrodzka has been appointed an Officer of the Order of the British Empire (OBE) for her services to genetics medicine and research and for her role as an honorary consultant clinical geneticist and Service Clinical Director of Genetics at NHS Grampian.

Her work ensures that advances in genetic research - for rare diseases, cancer risk and inherited disorders - translate into real diagnostic services, testing programmes, preventive screening and better healthcare for communities in Scotland.

Professor Miedzybrodzka led a research team which identified a specific variant of the gene BRCA1 linked to a historic origin on the island of Westray in the Orkney archipelago. This variant is associated with significantly increased risk of breast and ovarian cancer among carriers and is believed to be the first time within the UK that such a geographic ancestral link to a cancer-risk gene variant has been established.

This led to a pilot genetic testing programme offering screening to Westray residents with appropriate ancestry, regardless of personal or family history of cancer.

She is also Clinical Lead for Huntington’s Disease (HD) in the North of Scotland and has co-authored important epidemiological research mapping the prevalence of the HD gene expansion in Northern Scotland.

Professor Miedzybrodzka leads clinical research for HD treatments and has contributed to research that highlighted for the first time the needs of children and young people growing up in families affected by HD. This work led to the development of support and services in Scotland and internationally, making a difference to the lives of children and their families worldwide.

She has led major laboratory and clinical studies on conditions as varied as cystic fibrosis, clubfoot and oesophageal cancer. More recently, she led the NHS Scotland in 100,000 genomes project, not only delivering new diagnoses to patients with rare disease but measuring the impact of the tests in cutting edge economic studies with colleagues from the Health Economics Research Unit.

Professor Miedzybrodzka’s inclusion in the New Year Honour’s comes 74 years after her father Leslaw Miedzybrodzki was awarded the Air Force Cross for ‘exemplary gallantry while flying’ as an RAF test pilot.

She said: “I’m really moved to be recognised for my research and clinical work in genomic medicine over the last 35 years. It would not have been possible without my team who all pull together and all really care about patients and making a difference. This includes admin staff at the clinic, super dedicated nurses, genetic counsellors, medical and university colleagues, and also the lab staff who make individual test results available to patients with huge dedication.

"Half my work is for the University doing research and teaching medical genetics and the other half is practicing as a doctor specialising in genetics but also leading the NHS team.

"It's a long established clinic and I've been very pleased to lead it all these years. Our team look after people who live in NHS Highland, Orkney, Shetland and the Northern half of the Western Isles. I really want to thank the team for all that they do."

NHS Grampian Deputy Chief Executive June Brown commented: "Huge congratulations to Zosia whose contributions to patient care and research are outstanding. Her work will positively impact families for generations to come and we are extremely proud of all that she has and continues to achieve. Zosia leads a valued NHS service at the same time as contributing to ground-breaking discoveries in the field of genetics."

University Principal and Vice-Chancellor, Professor Peter Edwards, said: “These honours are a fitting tribute to the outstanding work and commitment to their respective fields as shown by Professor Miedzybrodzka and Professor Watson over many years.

“I am delighted that Professor Miedzybrodzka’s pioneering work at the University of Aberdeen and NHS Grampian has been recognised with an OBE. Her combination of scientific research, clinical practice, public health planning, and policy advising has made her a leader in the development of modern genomic medicine in Scotland.”