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Dr Valentina Cipriani

Valentina

Senior Lecturer in Statistical Genomics

Centre: Clinical Pharmacology and Precision Medicine

Email: v.cipriani@qmul.ac.uk

Profile

ORCID iD: 0000-0002-0839-9955

I have been a Senior Lecturer in Statistical Genomics at Queen Mary University of London since August 2022. I have extensive expertise in genetic association analysis using genotyping and sequencing data within large-scale national and international projects and consortia. My research focuses on the use of computational tools to explore the genetic determinants of rare Mendelian and common complex human diseases. I believe the two fields can inform each other, and I aim to investigate the full, continuous spectrum of disease-causing and disease-associated alleles.

My work has driven significant clinical impact, improving diagnostic yield for rare Mendelian diseases (Smedley*, …, Cipriani* et al., NEJM, 2021; Cipriani et al., Nature, 2025), informing pharmacogenetics clinical practice (Leong*, Cabrera*, Cipriani* et al., J Clin Oncol, 2024), and shaping potential therapeutics for complement-mediated diseases such as Age-related Macular Degeneration (AMD) (Cipriani et al., AJHG, 2021; Cipriani et al., Nat Commun, 2020).

My academic journey began with a degree in Statistics (Sapienza University, Rome, Italy) and a PhD in Public Health and Education (University of Pavia, Italy), which included two years as a visiting PhD student in Prof. David Balding’s group at Imperial College London. My doctoral work focused on meta-analytic methods for family-based genetic association studies. I held a successful postdoctoral research position at the UCL Institute of Ophthalmology (IoO) in London (2009–2012), where I led the first UK genome-wide association study (GWAS) of AMD (Cipriani et al., HMG, 2012). This work established my reputation in the field of complex ocular genetics and led to ongoing involvement with the International AMD Genomics Consortium (IAMDGC), contributing to multiple high-impact publications. From 2012 to 2017, I held an NIHR/BRC-funded position as a referent genetic statistician at Moorfields Eye Hospital (MEH) and the UCL IoO, 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 becoming a faculty member as Lecturer in Statistical Genomics (March 2020 – July 2022).

I have been a Fellow at QMUL’s Digital Environment Research Institute (DERI) since August 2022.

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Research

Group members

Contact me at v.cipriani@qmul.ac.uk or check out my LinkedIn account for currently available PhD/Post-doc positions (2 full-time post-doc posts – available for 3 years in the second half of 2025).

Current:

  • Amy Evans (4-year Barts Charity PhD student, 2023- ; shared primary supervision); project title: “Genetic determinants of pituitary adenomas”
  • Daniel Junho Chong (Artificial Intelligence in the Biosciences MSc student, 2025, primary supervision); project title: “Gene pathway burden analysis of intellectual disability patients from the 100,000 Genomes Project”
  • Haneen Khalil Naim Aljamal (Genomic Medicine MSc student, 2025, primary supervision); project title: “Gene pathway burden analysis of inherited retinal disease patients from the 100,000 Genomes Project”

Alumni:

  • Apoorva Sarah Perepogu (Bioinformatics MSc student, 2023, primary supervision); project title: “Extending the rare variant burden analysis to the non-coding genome with an application to the 100,000 Genomes Project data”
  • Catherine Kelly (Bioinformatics MSc student, 2021, primary supervision); Kelly C, …Cipriani V, Phenotype-aware prioritisation of rare Mendelian disease variants. Trends Genet, 38:1271-1283, 2022
  • Penpitcha Thawong (Bioinformatics MSc student, 2019, primary supervision); Cipriani V, …, Thawong P, et al. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes, 11:460, 2020

Summary

My research centres on the development and application of computational methods for genotyping and sequencing data to uncover the genetic underpinnings of both rare Mendelian disorders and common complex diseases. I view these domains as interconnected and complementary, and my research aims to explore the full continuum of disease-related genetic variation - from rare, high-impact genetic variants to common, polygenic risk alleles. My work is primarily conducted within large-scale national and international projects and consortia, including the Monarch Initiative, the 100,000 Genomes Project (100kGP), Genes & Health, the International Age-related Macular Degeneration (AMD) Genomics Consortium (IAMDGC), the International Mouse Phenotyping Consortium (IMPC) and the UK Biobank.

Below is a summary of key analyses I have been involved in:

  • Rare Mendelian disease diagnostics and gene-disease association discovery

I co-led the development of an Exomiser-based gene burden analytical framework (geneBurdenRD), and applied it to the preliminary data from the rare disease component of the 100kGP (joint-first author contribution to Smedley et al., NEJM, 2021) and the latest larger 100kGP dataset (Cipriani et al., Nature, 2025). These analyses have successfully led to the identification of multiple new disease-gene associations, including several also found in independent analyses and collaborations (Bourinaris*, Smedley*, Cipriani* et al., EJHG, 2020; Park*, Tucci*, Cipriani* et al., Genet Med, 2022). In the Genomic Medicine Year in Review: 2022, the AJHG featured our NEJM publication among the top ten advances in genomic clinical care reported in the previous 12 months.

  • Improvement and assessment of variant prioritisation tool Exomiser

I have been an active member of the Monarch Initiative (Shefchek et al., NAR, 2020) and Human Phenotype Ontology community (Köhler et al., NAR, 2019), contributing to the improvement and assessment of the flagship Exomiser tool for phenotype-based variant prioritisation in Mendelian disease. Such tools often lack extensive validation on real patient data. We have recently shown an effective Exomiser performance on a large rare disease whole-exome patient dataset (Cipriani et al., Genes, 2020), and I supervised an in-depth review of phenotype-based variant prioritisation tools (Kelly et al., Trends Genet, 2022).

  • Complex genetics of Age-related Macular Degeneration (AMD) and potential therapeutics for complement-mediated diseases

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 performed the largest GWAS of AMD with the discovery of 16 novel risk loci for a total of 52 AMD loci (I presented the corresponding results at the 64th ASHG meeting in 2014 and contributed to 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 the complement system. I have led a wealth of statistical genetic data analyses that have contributed to the identification of FHR proteins as major players in AMD pathogenesis with concrete potential implications for complement-inhibiting therapeutics (Cipriani et al., AJHG, 2021; Cipriani et al., Nat Commun, 2020). These pioneering advances in AMD and the complement system triggered the formation of Complement Therapeutics, a company focused on developing gene therapy assets for geographic atrophy (Innovation Passport granted by UK MHRA; €77M financing completed; investigating GA Insights (i-GAIN) study recruited 100+ UK participants and expanded to 10 USA centres).

Publications

Google Scholar statistics (as of May 2025): Citations: 7,569; h-index: 32; i10-index: 60

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    Collaborators

    Internal

    External

    • Prof. Peter Robinson (Berlin Institute of Health at Charité, Germany)
    • Dr. Richard Unwin (University of Manchester, UK)
    • Prof. Simon Clark (Tübingen University, Germany)
    • Prof. Alice Davidson, Prof. Alison Hardcastle, Ass. Prof. Amanda Carr, Ass. Prof. Nikolas Pontikos, Prof. Andrew Webster (UCL, UK)
    • Dr. Gavin Arno (Greenwood Genetic Centre, USA)
    • Dr. Ellen McDonagh (EMBL-EBI, UK)
    • Prof. Reecha Sofat (University of Liverpool, UK)
    • Prof. Mina Ryten (Cambridge University, UK)
    • Prof. Alfredo Brusco (University of Turin, Italy)

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    Disclosures

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