Dr Arianna Tucci
Clinical Reader in Genomic Medicine
Centre: Clinical Pharmacology and Precision Medicine
Email: a.tucci@qmul.ac.uk
Profile
Arianna Tucci is a Clinical Reader in Genomic Medicine and an Honorary Consultant in Clinical Genetics. She studied medicine and trained in Clinical Genetics at the University of Milan, Italy, and obtained her PhD in neurogenetics at University College London, UK. In 2017, she joined Genomic England to work as a clinical fellow in Rare Disease Genomics. In 2019, she was awarded an MRC Clinician Scientist award to study DNA repeats and their contribution to neurological disorders. Throughout her career, her main research focus has been elucidating the genetic basis of neurological disorders using advanced technologies and bioinformatic tools.
One of Arianna’s major achievements was working alongside the National Health Service in the UK and Genomics England to implement whole genome sequencing for diagnosis of repeat expansion neurological disorders. The study that led to its implementation in the NHS and is described in The Lancet Neurology journal in 2022.
Research
Group members
- Staff: Kristina Ibanez-Garikano, Anupriya Dalmia, Christopher Clarkson
- PhD student: Clarissa Rocca (Brain Research UK, UCL), Valentina Galassi Deforie (Lido PhD)
Summary
Our lab focusses on DNA sequence variants and repeats, and on how novel technologies can both further our understanding of neurological diseases and to improve diagnostics for patients.
Key projects:
- Use genomic approaches to identify the genetic basis of neurological disease such as ataxias, spastic paraplegia and intellectual disability (selected publications: 1101/2023.05.03.23289461; 10.1016/S1474-4422(21)00462-2; 10.1056/NEJMoa2035790; 10.1038/s41431-020-00720-w
- Study the frequency and distribution on different populations of repeat expansion disorders, using large-scale genomic dataset like Genomics England, UK Biobank and TopMed (https://doi.org/10.1093/brain/awad050);
- Study the transmission of DNA repeats in families to understand factors that influence germline instability
Publications
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Ibañez K, Jadhav B, Zanovello M et al. (2024). Increased frequency of repeat expansion mutations across different populations. nameOfConference
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Zeng Y-H, Gan S-R, Chen W-J (2023). Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. nameOfConference
DOI: 10.1056/nejmc2301605
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Zanovello M, Ibáñez K, Brown A-L et al. (2023). Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. nameOfConference
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Chen Z, Tucci A, Cipriani V et al. (2023). Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. nameOfConference
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Ronco R, Perini C, Currò R et al. (2023). Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. nameOfConference
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Park J, Tucci A, Cipriani V et al. (2022). Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. nameOfConference
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Dolzhenko E, Weisburd B, Ibañez K et al. (publicationYear). REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats. nameOfConference
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Bennett MF, Tucci A, Bahlo M (2022). Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use. nameOfConference
QMRO: qmroHref -
Ibañez K, Polke J, Hagelstrom RT et al. (2022). Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. nameOfConference
QMRO: qmroHref -
Rinaldi B, Ge Y, Freri E et al. (2022). Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene. nameOfConference
QMRO: qmroHref