The Academy of Medical Sciences has elected four University of Oxford biomedical and health scientists to its fellowship in 2026, including Professor Nicola Whiffin, who is based in the Big Data Institute.
The new Fellows have been elected to the Academy in recognition of their outstanding contributions to advancing medical science, through discovery research, translational work and the application of scientific knowledge in ways that deliver tangible benefits for patients and the wider public.
The Oxford Fellows are among the 60 new Fellows announced this year who will be formally admitted to the Academy at a ceremony on Tuesday 30 June.
Professor Nicola Whiffin is Associate Professor / Group Leader and Wellcome Career Development Award Fellow at the Big Data Institute and the Centre for Human Genetics in the Nuffield Department of Medicine.
She leads the Computational Rare Disease Genomics group, which specialises in analysing large genome sequencing datasets to better understand the genetic basis of rare disease to improve both diagnosis and access to treatments. She is particularly interested in ‘non-coding’ regions of the genome that have traditionally been understudied but make up >98% of our DNA. She is an expert in the annotation and interpretation of genetic variants in non-coding regions, for which she has led the creation of clinical guidelines. In 2024, her team led a global collaboration that identified variants in a non-coding RNA gene RNU4-2 as a cause of a remarkably prevalent neurodevelopmental disorder, ReNU syndrome. She now works with ReNU syndrome families to advocate for increased awareness of the disorder and as a scientific advisor for the patient advocacy group ReNU syndrome United.
Professor Whiffin said: ‘I am delighted to be elected as a Fellow of the Academy of Medical Sciences. This honour recognises the work of incredible team members past and present, whom it has been an absolute pleasure to work alongside, as well as many wonderful collaborators and mentors.
‘Our work aims to find new diagnoses for individuals with rare genetic disorders, particularly focusing on regions of DNA that have previously been unexplored. I am excited to join the Academy and look forward to opportunities to work with others in the fellowship to advocate for increased equity in genetic testing and awareness of rare genetic disorders.’