Dr Arianna Tucci

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

• Wakeling E, Baptiste R, Rocca C et al. (2026). Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice. nameOfConference

  
  

  DOI: 10.1016/j.gim.2025.101619

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/117269
• Bennett MF, Corbett MA, Kroes T et al. (2025). Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy. nameOfConference

  
  

  DOI: 10.1093/braincomms/fcaf433

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/113611
• Bertini A, Facchini S, Quartesan I et al. (2025). CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project. nameOfConference

  
  

  DOI: 10.1136/jnnp-2025-336590

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/117267
• Cipriani V, Vestito L, Magavern EF et al. (2025). Rare disease gene association discovery in the 100,000 Genomes Project. nameOfConference

  
  

  DOI: 10.1038/s41586-025-08623-w

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/105086
• Booth ME, Wood HM, Travis MA et al. (2025). The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas. nameOfConference

  
  

  DOI: 10.1007/s10120-025-01588-9

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/125096
• Jawaid T, Elbarougy DE, Lavu S et al. (2025). Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants. nameOfConference

  
  

  DOI: 10.1681/asn.0000000613

  
  

  QMRO: qmroHref
• Elhassan EAE, Collins KE, Heneghan S et al. (2025). The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease. nameOfConference

  
  

  DOI: 10.1007/s40620-025-02211-x

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/125094
• Rocca C, Murphy D, Clarkson C et al. (publicationYear). Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits. nameOfConference

  
  

  DOI: 10.3390/genes16020169

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/124391
• Foddis M, Blumenau S, Mueller S et al. (2025). Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study. nameOfConference

  
  

  DOI: 10.1161/strokeaha.124.049575

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/113612
• Clarkson C, Chen Z, Rocca C et al. (2025). A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank. nameOfConference

  
  

  DOI: 10.1002/mds.30073

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/102983

Teaching

Undergraduate Education:

• MBBS: OSCE Examiner (Clinical)

External Education Activities:

• Imperial College London: MSc Genomic Medicine Project Supervisor
• UCL: PhD Supervisor and Thesis Committee, and  yearly MSc lecture
• Great Ormond Street Hospital: Academic Clinical Fellows Supervisor
• PhD Examiner (University of Exeter)