On Rare Disease Day 2026, we highlight the work of Professor Zosia Miedzybrodzka. Zosia is the Service Clinical Director of Genetics at NHS Grampian and Professor of Medical Genetics at University of Aberdeen. She was appointed an Officer of the Order of the British Empire (OBE)* in the 2026 New Year Honours. Her appointment recognised her outstanding work in genetic medicine and research.
Rare diseases are often difficult to diagnose. Many people wait years for answers, especially those living in remote or rural areas. Zosia’s work brought modern genetic testing and research into everyday healthcare. This helps people with rare diseases and inherited conditions access
- diagnostic services,
- testing programmes and
- preventive screening
Here is an example. One of her projects involved finding a rare genetic change in the ‘BRCA1 gene’ in people with ancestry from the island of Westray in Orkney. People with this particular genetic change have a higher risk to develop breast and ovarian cancer. This discovery led to a new genetic screening programme. It allowed people with Westray ancestry to receive early checks and advice. This has helped save lives through prevention and early treatment.
Zosia is also the Clinical Lead for Huntington’s disease in the North of Scotland. Huntington’s is a rare inherited condition that affects the brain. Her research has improved understanding of how common the condition is in the region. It also highlighted the needs of children growing up in affected families. This work has helped shape better support services for families in Scotland and beyond.
You can read a longer article celebrating Zosia’s achievements here: NHS Grampian and University of Aberdeen medical geneticist recognised in New Year’s Honours
*An OBE is a national honour awarded by the King to recognise people who have made an important contribution to society. Zosia’s OBE recognises her commitment to turning research into improvements in rare disease care.