Meet one of our 2025 Pilot Grant Recipients, Arianna Tucci, MD, PhD! Dr. Arianna Tucci’s research focuses on advancing genomic medicine in rare diseases by analyzing large-scale human genomic data and translating findings into clinically relevant applications. In recent years, she has developed expertise in analyzing short DNA repeats across human genomes, with a particular emphasis on repeat expansion disorders. Her combined expertise in clinical human genetics and genomics has contributed to significant advancements in the field.

Dr. Tucci’s research on DNA repeats using whole-genome sequencing has been implemented in the UK National Health Service. She also identified a major cause of intellectual disability linked to a repeat expansion in the AFF3 gene and provided accurate estimates of the frequency of repeat expansion mutations across populations. She leverages the widespread availability of genomic data from large populations to study the complex relationship between repeat expansions and their diverse clinical manifestations.

Dr. Tucci's work aims to identify genetic modifiers that influence disease penetrance and expressivity, with particular relevance to myotonic dystrophies. She anticipates that this project will generate further research questions aimed at identifying trans-acting genetic modifiers affecting disease outcomes. Dr. Tucci remains committed to addressing these critical questions to improve the diagnosis and care of patients affected by repeat expansion disorders.

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