Working Life: Dr Sofia Nunes, consultant clinical geneticist, Mater Misericordiae University Hospital

Genetics can help when traditional approaches reach their limits

Dr Sofia Nunes, consultant clinical geneticist, Mater Misericordiae University Hospital, Dublin. 

“I’m from Lisbon, where I studied medicine at Nova Medical School. After completing a year of general internship working with different specialities, I found it hard to commit to any particular one. I wanted something intellectually demanding and continually evolving. I recognised that conventional medicine does not always provide all the answers, and this led me to my higher specialist training in genetics, a field that can help bridge gaps when traditional approaches reach their limits.

“I dedicate a great part of my time to cardiogenetics. A patient might have a clinical diagnosis such as arrhythmia or cardiomyopathy, and I need to determine if the condition has a genetic cause. Different genes are associated with different conditions, and knowing the gene will have a huge influence in terms of clinical management, prognosis, family planning, and cascade screening. The latter is a process used in genetics to identify relatives of a person with a confirmed hereditary condition, enabling the early detection and management of at-risk family members.