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The William Harvey Research Institute - Barts and The London

Dr Valentina Cipriani

Valentina

Lecturer in Statistical Genomics

Centre: Clinical Pharmacology

Email: v.cipriani@qmul.ac.uk
Telephone: +44(0) 207 882 2096
Twitter: @Val3Cipriani

Profile

I hold a Degree in ‘Statistics’ (Sapienza University, Rome, 2004) and a PhD in ‘Public Health and Education’ (University of Pavia, Italy, 2009; including 2-year visiting PhD student at Prof. Balding's group, Imperial College London), with a thesis on meta-analytic methods for family-based genetic association studies. 

A successful post-doc (2009-2012) at the UCL Institute of Ophthalmology (London) with the publication of the first genome-wide association study (GWAS) of age-related macular degeneration (AMD) in the UK (Cipriani et al., HMG, 2012) led me to be recognised as an expert in the complex genetics of AMD both in the UK and internationally. I have been an active analyst of the International AMD Genomics Consortium (IAMDGC) with several other high-impact publications (see publication list).

I was then funded through a 5-year NIHR-BRC grant (2012-2017) as the referent genetic statistician at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, where I expanded my research activities beyond complex genetics into rare disease diagnostics and gene discovery, and built a solid network of collaborators that landed my current affiliation at QMUL, first as ‘Senior Bioinformatics Research Fellow’ (2017-2020, Prof. Smedley’s group) and then as ‘Lecturer in Statistical Genomics’ (March 2020 - present).

Research

Group members

Alumni: Miss Penpitcha Thawong (MSc in Bioinformatics, 2018-2019)

Summary

My research aims to help elucidate the genetic determinants of complex and rare Mendelian human diseases by using cutting-edge computational tools in genotyping and sequencing association studies. 

I am currently involved in many national and international human genetic projects, including studies of the complex genetics of age-related macular degeneration (AMD) and the analysis of genomic data from the 100,000 Genomes Project (100KGP) and the University College London (UCL) exome consortium (UCLex).

I have been an active member of the Monarch Initiative and Human Phenotype Ontology community, contributing to the improvement and assessment of flagship Exomiser tool for phenotype-based variant prioritisation. Such tools often lack extensive validation on real-patient data. I have recently showed an effective Exomiser performance on a large rare disease whole-exome patient dataset (Cipriani et al., Genes, 2020). Furthermore, I co-led the application of an Exomiser-based pipeline to the pilot phase of the 100KGP pilot (under review) that has already resulted in a confirmed gene discovery (Bourinaris, Smedley & Cipriani et al., EJHG, 2020). 

I have recently led a comprehensive analysis that used a combination of haplotype-sharing, genotyping and sequencing methods and successfully identified non-coding SNVs and duplications in 13 families affected by a rare autosomal dominant macular dystrophy (Cipriani et al., Sci Rep, 2017). This was a long-awaited result, with the linkage region for this disorder being known for 15 years.

I was the leading statistician for the first genome-wide association study (GWAS) of AMD in the UK (Cipriani et al., HMG, 2012). The study allowed me to become a member of the International AMD Genomics Consortium (IAMDGC). The IAMDGC has recently performed the largest GWAS of AMD with the discovery of 16 novel risk loci. I presented these latest advances at the 64th ASHG meeting (San Diego, 2014) and contributed to the last IAMDGC manuscript (Fritsche et al., Nat Genet, 2016). Building on this experience, I have been pursuing a much-needed dissection of the well-established AMD-association at the CFH locus (known since 2005) with national and international experts in AMD and complement system. This effort has recently led to the identification of FHR-4 as a major player in AMD pathogenesis with potential implications for therapeutics (Cipriani et al., Nat Comm, 2020).

I am a Senior Editor for the Annals of Human Genetics.

Key Publications

  • Cipriani V,* Lores-Motta L,* He F, Fathalla D, Tilakaratna V, McHarg S, Bayatti N, Ilhan EA, Hoyng CB, Fauser S, Moore AT, Yates JRW, International Age-related Macular Degeneration Genomics Consortium (IAMDGC), de Jong EK, Morgan P, den Hollander AI, Bishop PN, Clark SJ. Factor H-Related Protein 4 helps drives age-related macular degeneration. Nat Comm, 11:778 (2020)
  • Bourinaris T,* Smedley D,* Cipriani V,* Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R, Harrison V, Reid E, Wood N, Genomics England Research Consortium, Vandrovcova J, Houlden H, Tucci A. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. Eur J Hum Genet, 28, pages1763–1768 (2020)
  • Cipriani V, Pontikos N, Arno G, Sergouniotis PI, Lenassi E, Thawong P, Danis D, Michaelides M, Webster AR, Moore AT, Robinson PN, Jacobsen JOB, Smedley D. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes, 11:460 (2020)
  • Silva RS,* Arno G,* Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR. Unique non-coding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including Progressive Bifocal Chorioretinal Atrophy. Hum Mutat 40:578-587 (2019)
  • Cipriani V,* Silva RS,* Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. Sci Rep, 7:7512 (2017)
  • Cipriani V,* Hogg RE,* Sofat R, Jenkins S, Moore AT, Yates JRW, Webster AR, Fletcher AE on behalf of the EUREYE Study Group. C-reactive protein CRP genetic polymorphisms and late age-related macular degeneration. JAMA Ophthalmology, 135:909-916 (2017)
  • Fritsche LG,* Chen W,* Schu M,* Yaspan BL,* Yu Y,* Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, et al. Seven new loci associated with age-related macular degeneration. Nat Genet, 45:433-439 (2013)
  • Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Leveillard T, French AMD Investigators, Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JRW. Genome-wide association study of age-related macular degeneration identities associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet, 21:4138-4150 (2012)

Collaborators

Internal:

Professor Sir Mark Caulfield Professor Marta Korbonits 

External:

Prof. Peter Robinson (JAX, USA), Dr. Richard Unwin (University of Manchester), Prof. Simon Clark (Tübingen University, Germany), Dr. Nikolas Pontikos (UCL), Prof. Reecha Sofat (UCL), Prof. Andrew Webster (UCL), Dr. Amanda Carr (UCL), Dr. Arianna Tucci (MRC Fellow, Genomics England), Prof. Mina Ryten (UCL), Prof. Giorgia Girotto (IRCCS Burlo Garofolo, Italy)