The winner of this year’s Leena Peltonen prize, to be awarded at the ESHG annual meeting being held in Gothenburg, Sweden, is Nicola (Nicky) Whiffin, an Associate Professor at the Big Data Institute and Centre for Human Genetics at the University of Oxford, UK. The prize is awarded to an outstanding young researcher in the field of human genetics, and honours the memory of Dr Leena Peltonen, a world-renowned human geneticist from Finland who died in 2010, and who contributed greatly to the identification of disease genes for human diseases.
Nicky Whiffin’s undergraduate degree was in Natural Sciences at the University of Cambridge, where she first discovered her love of genetics. After this she studied for a PhD in genetic susceptibility to colorectal cancer at the Institute of Cancer Research in London. During her postdoctoral work at Imperial College London, she developed tools and methods to improve interpretation of variants identified in patients with Inherited heart conditions. This included developing a framework to determine when a variant is too common to cause disease, which is widely used in clinical genetic testing today.
But she found herself frustrated that most genetic testing and research was focussed on the ~1.5% of the genome that directly codes for proteins. She set up her own research group at the University of Oxford in 2020 as part of a personal mission to change this.
Nicky’s group studies non-coding regions, including untranslated regions (UTRs) that regulate and fine-tune how genes are expressed and translated, and non-coding RNAs, which have diverse functional roles. They investigate new mechanisms by which genetic variants in these regions can cause disease to help diagnose the more than half of rare disease patients where the disease-causing variant is as yet unknown. Nicky’s team’s recent work on small nuclear RNA (snRNA) genes has been particularly impactful: as part of a large global collaboration, they initially discovered a tiny 18 base-pair region of the genome within which genetic changes cause the highly prevalent developmental disorder that is now called ReNU syndrome*. They estimate that this newly-identified syndrome represents about 0.4% of all neurodevelopmental disorders, or 100,000 people worldwide. In collaborative follow-up work, the team tested hundreds of possible variants and identified those that were damaging. In the process, they uncovered another, this time recessive, neurodevelopmental disorder associated with the same gene, RNU4-2. Since the discovery of ReNU syndrome in 2024, Nicky has been a tireless advocate for the affected families, including fighting for the disorder to be named ReNU syndrome and as a scientific advisor for the newly-established foundation ReNU syndrome United.
Collectively, Nicky’s genetic discoveries have informed diagnoses for hundreds of individuals around the world, providing long-awaited answers to families, as well the impetus to create support and advocacy communities. As part of her mission to see broader inclusion of non-coding variants in clinical genetic testing, and recognising the barriers to this, four years ago Nicky set up of an expert panel of clinical and research scientists working in the field to develop clinical recommendations. This guidance increases the number and range of non-coding variants that can be clinically interpreted, enabling non-coding diagnoses to be routinely returned in the clinic.