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

• Ibañez K, Jadhav B, Zanovello M et al. (2024). Increased frequency of repeat expansion mutations across different populations. nameOfConference

  
  

  DOI: 10.1038/s41591-024-03190-5

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/103014
• 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

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89467
• Zanovello M, Ibáñez K, Brown A-L et al. (2023). Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population. nameOfConference

  
  

  DOI: 10.1093/brain/awad050

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89471
• Chen Z, Tucci A, Cipriani V et al. (2023). Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. nameOfConference

  
  

  DOI: 10.1093/brain/awad009

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89472
• Ronco R, Perini C, Currò R et al. (2023). Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. nameOfConference

  
  

  DOI: 10.1212/wnl.0000000000201486

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89466
• 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

  
  

  DOI: 10.1016/j.gim.2022.07.006

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89469
• Dolzhenko E, Weisburd B, Ibañez K et al. (publicationYear). REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats. nameOfConference

  
  

  DOI: 10.1186/s13073-022-01085-z

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89468
• Bennett MF, Tucci A, Bahlo M (2022). Detecting Tandem Repeat Expansions Using Short-Read Sequencing for Clinical Use. nameOfConference

  
  

  DOI: 10.1007/978-1-0716-2357-2_2

  
  

  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

  
  

  DOI: 10.1016/s1474-4422(21)00462-2

  
  

  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

  
  

  DOI: 10.1007/s10048-021-00678-x

  
  

  QMRO: qmroHref
• Smedley D, Smith KR, Martin AR et al. (2021). 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. nameOfConference

  
  

  DOI: 10.1056/nejmoa2035790

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/79432
• Rinaldi B, Ge Y-H, Freri E et al. (2022). Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene. nameOfConference

  
  

  DOI: 10.1007/s10048-021-00666-1

  
  

  QMRO: qmroHref
• Schon KR, Horvath R, Wei W et al. (publicationYear). Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. nameOfConference

  
  

  DOI: 10.1136/bmj-2021-066288

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89470
• Silvennoinen K, Puvirajasinghe C, Hudgell K et al. (2021). Late diagnoses of Dravet syndrome: How many individuals are we missing?. nameOfConference

  
  

  DOI: 10.1002/epi4.12525

  
  

  QMRO: qmroHref
• Pagnamenta AT, Kaiyrzhanov R, Zou Y et al. (2021). An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. nameOfConference

  
  

  DOI: 10.1093/brain/awaa420

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/70063
• Pairo-Castineira E, Clohisey S, Klaric L et al. (2021). Genetic mechanisms of critical illness in COVID-19.. nameOfConference

  
  

  DOI: 10.1038/s41586-020-03065-y

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70806
• Dewan R, Chia R, Ding J et al. (2021). Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. nameOfConference

  
  

  DOI: 10.1016/j.neuron.2020.11.005

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70069
• Parry DA, Martin CA, Greene P et al. (2020). Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. nameOfConference

  
  

  DOI: 10.1038/s41436-020-00980-3

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70067
• Bourinaris T, Smedley D, Cipriani V et al. (publicationYear). Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. nameOfConference

  
  

  DOI: 10.1038/s41431-020-00720-w

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67071
• Chen Z, Yan Yau W, Jaunmuktane Z et al. (publicationYear). Neuronal intranuclear inclusion disease is genetically heterogeneous. nameOfConference

  
  

  DOI: 10.1002/acn3.51151

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66401
• Vig A, Poulter JA, Ottaviani D et al. (2020). DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. nameOfConference

  
  

  DOI: 10.1038/s41436-020-0915-1

  
  

  QMRO: qmroHref
• Wei W, Pagnamenta AT, Gleadall N et al. (publicationYear). Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. nameOfConference

  
  

  DOI: 10.1038/s41467-020-17572-z

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70064
• Tolchin D, Yeager JP, Prasad P et al. (2020). De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. nameOfConference

  
  

  DOI: 10.1016/j.ajhg.2020.04.015

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66405
• Wei W, Pagnamenta AT, Gleadall N et al. (publicationYear). Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. nameOfConference

  
  

  DOI: 10.1038/s41467-020-15336-3

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66528
• Freeman TM, Wang D, Harris J et al. (2020). Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. nameOfConference

  
  

  DOI: 10.1101/gr.255349.119

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/68526
• Guelfi S, D’Sa K, Botía JA et al. (publicationYear). Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. nameOfConference

  
  

  DOI: 10.1038/s41467-020-14483-x

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66523
• Cacheiro P, Muñoz-Fuentes V, Murray SA et al. (2020). Human and mouse essentiality screens as a resource for disease gene discovery. nameOfConference

  
  

  DOI: 10.1038/s41467-020-14284-2

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/63299
• Thomas ERA, Pasko D, Boustred C et al. (2020). Modelling diagnostic yield in the 100,000 Genomes Rare Disease Project using panel-based analysis and complementary approaches. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/70168
• Smedley D, Abbs S, Arno G et al. (2020). The impact of the 100,000 Genomes Project on rare disease in national healthcare. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/70170
• Kasperaviciute D, Smith KR, Ibanez K et al. (2020). Validation of Clinically Relevant Variant Detection from Whole Genome Sequencing for NHS England's Genomic Medicine Service. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/70844
• Hong Y, Nanthapisal S, Omoyinmi E et al. (publicationYear). Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2. nameOfConference

  
  

  DOI: 10.3389/fimmu.2019.02589

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66525
• Martin AR, Williams E, Foulger RE et al. (2019). PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. nameOfConference

  
  

  DOI: 10.1038/s41588-019-0528-2

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/65367
• Smith KR, Bleda M, Kasperaviciute D et al. (2019). Uniparental disomy in the Rare Disease Programme of the UK's 100,000 Genomes Project. European Society of Human Genetics

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67378
• Wheway G, Ambrose JC, Baple EL et al. (publicationYear). Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project. nameOfConference

  
  

  DOI: 10.3389/fgene.2019.00569

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67317
• Pagnamenta AT, Heemeryck P, Martin HC et al. (2019). Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. nameOfConference

  
  

  DOI: 10.1093/hmg/ddz186

  
  

  QMRO: qmroHref
• Salpietro V, Dixon CL, Guo H et al. (publicationYear). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. nameOfConference

  
  

  DOI: 10.1038/s41467-019-10910-w

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66527
• Chelban V, Wilson MP, Chardon JW et al. (2019). PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. nameOfConference

  
  

  DOI: 10.1002/ana.25524

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66524
• Dolzhenko E, Deshpande V, Schlesinger F et al. (2019). ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions. nameOfConference

  
  

  DOI: 10.1093/bioinformatics/btz431

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/68008
• Billingsley KJ, Barbosa IA, Bandrés-Ciga S et al. (publicationYear). Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset. nameOfConference

  
  

  DOI: 10.1038/s41531-019-0080-x

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69502
• Reynolds RH, Botía J, Nalls MA et al. (publicationYear). Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability. nameOfConference

  
  

  DOI: 10.1038/s41531-019-0076-6

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/69262
• Wheway G, Consortium GER, Mitchison HM et al. (publicationYear). Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project. nameOfConference

  
  

  DOI: 10.3389/fgene.2019.00127

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/67323
• Ciaccio C, Scuvera G, Tucci A et al. (2020). New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review. nameOfConference

  
  

  DOI: 10.1159/000494532

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66403
• Thomas ERA, Devereau A, Brittain H et al. (2018). Widespread uptake of the Human Phenotype Ontology (HPO) in the National Health Service (NHS) in England as part of the 100,000 Genomes Project. european society human genetics

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67379
• Blauwendraat C, Kia DA, Pihlstrøm L et al. (2018). Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. nameOfConference

  
  

  DOI: 10.1016/j.neurobiolaging.2017.12.012

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/56452
• Ferrari L, Scuvera G, Tucci A et al. (2017). Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. nameOfConference

  
  

  DOI: 10.1007/s00439-017-1832-5

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66526
• Tucci A, Saletti V, Menni F et al. (2017). The absence that makes the difference: choroidal abnormalities in Legius syndrome. nameOfConference

  
  

  DOI: 10.1038/jhg.2017.78

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67372
• Chelban V, Tucci A, Lynch DS et al. (2017). Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. nameOfConference

  
  

  DOI: 10.1136/jnnp-2017-315796

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67373
• Blauwendraat C, Faghri F, Pihlstrom L et al. (2017). NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. nameOfConference

  
  

  DOI: 10.1016/j.neurobiolaging.2017.05.009

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67322
• Ronzoni L, Grassi FS, Pezzani L et al. (2017). 7p22.1 microduplication syndrome: Refinement of the critical region. nameOfConference

  
  

  DOI: 10.1016/j.ejmg.2016.11.005

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67316
• Tucci A, Pezzani L, Scuvera G et al. (2017). Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases. nameOfConference

  
  

  DOI: 10.1002/ajmg.a.38054

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67319
• Tucci A, Ciaccio C, Scuvera G et al. (2016). MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions. nameOfConference

  
  

  DOI: 10.1186/s13039-016-0289-x

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67320
• Kara E, Tucci A, Manzoni C et al. (2016). Genetic and phenotypic characterization of complex hereditary spastic paraplegia. nameOfConference

  
  

  DOI: 10.1093/brain/aww111

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/67318
• Tucci A, Ronzoni L, Arduino C et al. (2016). The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. nameOfConference

  
  

  DOI: 10.1186/s12881-016-0287-1

  
  

  QMRO: qmroHref
• Ronzoni L, Tagliaferri F, Tucci A et al. (2016). Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene. nameOfConference

  
  

  DOI: 10.1002/ajmg.a.37553

  
  

  QMRO: qmroHref
• Lynch DS, Koutsis G, Tucci A et al. (2016). Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. nameOfConference

  
  

  DOI: 10.1038/ejhg.2015.200

  
  

  QMRO: qmroHref
• Koutsis G, Lynch DS, Tucci A et al. (2015). A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings. nameOfConference

  
  

  DOI: 10.1016/j.jns.2015.05.031

  
  

  QMRO: qmroHref
• Schottlaender LV, Polke JM, Ling H et al. (2015). The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. nameOfConference

  
  

  DOI: 10.1016/j.neurobiolaging.2014.08.024

  
  

  QMRO: qmroHref
• Cortese A, Tucci A, Piccolo G et al. (2014). Novel CLN3 mutation causing autophagic vacuolar myopathy. nameOfConference

  
  

  DOI: 10.1212/wnl.0000000000000490

  
  

  QMRO: qmroHref
• Tucci A, Liu Y-T, Preza E et al. (2014). Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. nameOfConference

  
  

  DOI: 10.1136/jnnp-2013-306387

  
  

  QMRO: qmroHref
• Tucci A, Kara E, Schossig A et al. (2013). Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. nameOfConference

  
  

  DOI: 10.1002/humu.22241

  
  

  QMRO: qmroHref
• Sailer A, Scholz SW, Gibbs JR et al. (2012). Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. nameOfConference

  
  

  DOI: 10.1212/wnl.0b013e31825f048e

  
  

  QMRO: qmroHref
• Tucci A, Charlesworth G, Sheerin U-M et al. (2012). Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. nameOfConference

  
  

  DOI: 10.1016/j.neulet.2012.04.033

  
  

  QMRO: qmroHref
• Setó‐Salvia N, Pagonabarraga J, Houlden H et al. (2012). Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. nameOfConference

  
  

  DOI: 10.1002/mds.24045

  
  

  QMRO: qmroHref
• Tucci A, Nalls MA, Houlden H et al. (2010). Genetic variability at the PARK16 locus. nameOfConference

  
  

  DOI: 10.1038/ejhg.2010.125

  
  

  QMRO: qmroHref
• Alonso‐Canovas A, Katschnig P, Tucci A et al. (2010). Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review. nameOfConference

  
  

  DOI: 10.1002/mds.23109

  
  

  QMRO: qmroHref