Dr Valentina Cipriani

Profile

ORCID iD: 0000-0002-0839-9955

Dr Valentina Cipriani is a Reader (Associate Professor) in Statistical Genomics at William Harvey Research Institute (WHRI), Queen Mary University of London (QMUL) and a Fellow at QMUL’s Digital Environment Research Institute (DERI).

Her research focuses on the development and application of computational tools to explore the genetic determinants of rare Mendelian and common complex human diseases. As the two fields can inform each other, Dr Cipriani aims to investigate the spectrum of disease-causing and disease-associated alleles using genomics and other omics data within large-scale health datasets. Her 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). She authored > 70 peer-reviewed publications and has secured competitive research funding for ~£530k as Principal Investigator and ~£1.8M as co-Investigator (see ‘Sponsors’ section for more details). She also coordinates the QMUL CompBio Network, a growing community of computational staff and students focused on health data analysis, encompassing computational biology, bioinformatics, statistical genetics/genomics, and AI/machine learning. The network hosts seminars and social events to foster interaction and collaboration. Dr Cipriani values continuous learning and self-development (as Springboard Women's Development Programme and ‘Leadership in Action’ alumna) and brings this ethos to her research and teaching, as well as to her roles as an Academic Advisor and post-doctoral mentor.

Her 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. Her doctoral work focused on meta-analytic methods for family-based genetic association studies. She held a successful postdoctoral research position at the UCL Institute of Ophthalmology (IoO) in London (2009–2012), where she led the first UK genome-wide association study (GWAS) of AMD (Cipriani et al., HMG, 2012). This work established her 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, she held an NIHR/BRC-funded position as a Senior Research Associate at Moorfields Eye Hospital (MEH) and the UCL IoO, where she expanded her research activities beyond complex genetics into rare disease diagnostics and gene discovery, and built a solid network of collaborators that landed her 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).

Find Dr Cipriani on:
LinkedIn

Research

Group members

Contact Dr Cipriani at v.cipriani@qmul.ac.uk or check out her LinkedIn account for currently available post-doc/PhD positions (2 full-time post-doc posts – available for 3 years in the second half of 2025) and prospective PhD student projects.

Current

• Amy Evans (4-year Barts Charity PhD student, 2023- ; shared supervision); project title: “Genetic determinants of pituitary adenomas”

Alumni

• 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 MSc Genomic Medicine student, 2025, primary supervision); project title: “Gene pathway burden analysis of inherited retinal disease patients from the 100,000 Genomes Project”
• 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

Dr Cipriani’s research focuses on developing and applying computational methods for genomics and other omics data to uncover the genetic basis of both rare Mendelian disorders and common complex diseases - from rare, high-impact genetic variants to common, polygenic risk alleles. Her work is primarily conducted within large-scale national and international projects and consortia, including the 100,000 Genomes Project (100kGP), the Monarch Initiative, the International Age-related Macular Degeneration (AMD) Genomics Consortium (IAMDGC), Genes & Health, the International Mouse Phenotyping Consortium (IMPC) and the UK Biobank.

• Rare Mendelian disease diagnostics and gene-disease association discovery
  Dr Cipriani 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 her NEJM publication among the top ten advances in genomic clinical care reported in the previous 12 months. Dr Cipriani has 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 (Cipriani et al., Genes, 2020, senior author in Kelly et al., Trends Genet, 2022).
  
  
• Complex genetics of Age-related Macular Degeneration (AMD) and potential therapeutics for complement-mediated diseases
  Dr Cipriani 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 her 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 (she presented the corresponding results at the 64^th ASHG meeting in 2014 and contributed to Fritsche et al., Nat Genet, 2016). Building on this experience, she has 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. She has 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).
  
  

• Rare disease mapping and genetic associations in South Asians from large-scale health datasets
  Dr Cipriani has recently received a 3-year grant of £530k from Barts Charity to realise the full potential of health and genomic data in Genes & Health, the UK Biobank and the 100,000 Genomes Project for estimating rare disease prevalence and genetic associations in South Asians.

Publications

Google Scholar statistics (as of Oct 2025): Citations: 8,075; h-index: 32; i10-index: 64
ORCID iD: 0000-0002-0839-9955

Collaborators

Internal

• Professor Damian Smedley
• Professor Sir Mark Caulfield
• Professor Marta Korbonits
• Professor Patricia Munroe
• Dr. Arianna Tucci
• Dr. Claudia Cabrera
• Dr. Stavroula Kanoni

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. Hannah Mitchison (UCL, UK)
• 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)
• Prof. Emanuela D’Angelo (University of Chieti-Pescara, Italy)

News

• BBC News - Macular degeneration: Link found in eye disease treatment
• Eye News - The International AMD Genomics Consortium study

Teaching

Undergraduate Education:

• BSc Pharmacology and Innovative Therapeutics: in-person and digital lectures on ‘Basic Principles of Bioinformatics’
• BSc Biomedical Sciences PBL facilitator
• MBBS PBL facilitator, SSC supervisor and oral presentation marker, Academic advisor

Postgraduate Education:

• MSc Genomic Medicine: workshop on ‘Making a Diagnosis’ and project supervision
• MSc Bioinformatics: project supervision
• MSc Artificial Intelligence in the Biosciences: project supervision
• PhD supervisor (Barts Charity)
• QMUL MentorNet post-doc mentor
• PhD examiner

External Education Activities:

• PhD examiner
  
  

Disclosures

None.