Valentina Cipriani

Dr. Valentina Cipriani is a Senior Lecturer in Statistical Genomics at Queen Mary University of London (QMUL), affiliated with the William Harvey Research Institute (WHRI) in the Faculty of Medicine and Dentistry. She holds a PhD in Public Health and Education from the University of Pavia, Italy, with visiting research at Imperial College London. Her work focuses on computational methods for genotyping and sequencing data to uncover genetic determinants of rare Mendelian and common complex diseases. She leads initiatives in rare disease diagnostics, AMD genetics, and precision medicine, contributing to large consortia like the International AMD Genomics Consortium (IAMDGC) and the 100,000 Genomes Project.

Education:

• PhD in Public Health and Education, University of Pavia (Italy)
• Visiting PhD at Imperial College London under Prof. David Balding
• MSc in Statistics, Sapienza University of Rome (Italy)

Research interests include:

• Statistical analysis of genetic data for rare and common diseases
• Computational tools for variant prioritization (e.g., Exomiser)
• Genetic basis of AMD and complement-mediated diseases
• Therapeutic development for geographic atrophy
• Large-scale genomic studies and clinical translation

Key research trends in her articles focus on:

• Improving diagnostic yield for rare diseases via gene burden analysis
• Complement system dysregulation in AMD pathogenesis
• Pharmacogenetic insights for oncology therapies
• Integration of phenotype-driven approaches in variant prioritization

Grants and collaborations include:

• £528k Barts Charity grant for rare disease prevalence analysis
• NIHR/BRC funding for genomic medicine
• Partnerships with UCL, Moorfields Eye Hospital, and international institutions

Labs/Teams: Co-founder of Complement Therapeutics (gene therapy for AMD), active in the IAMDGC and Monarch Initiative.