Profile
ORCID iD: 0000-0002-6335-8208
Dr Cacheiro holds a BSc in Biology (University of A Coruña, Spain), a MSc in Statistics and a PhD in Molecular Medicine from the University of Santiago de Compostela, Spain. Pilar joined QMUL as a Postdoctoral Research Fellow in 2017, was appointed Lecturer in 2023, and was most recently promoted to Senior Lecturer in Computational Biology in 2025. Pilar’s research focuses on integrating multiple sources of evidence to develop strategies for disease-gene discovery and variant prioritisation. She aims to improve the diagnosis of patients with rare disorders and to uncover the mechanisms underlying gene essentiality and prenatal lethality in humans. Her research builds on a strong background in model organism data, phenotype ontologies, and human genetics.
Pilar’s research outputs reflect efforts to improve the diagnosis of Mendelian conditions by leveraging information from model organisms, human cell line assays, and large-scale human sequencing studies to identify novel disease-associated genes.
Research
Group members
Poojita Karchalkar (Genomic Data Scientist), Jerónimo Moreno-Cuesta (PhD Student)
Summary
Pilar is a Senior Lecturer in Computational Biology with extensive expertise in genomics data curation, integration, analysis, and interpretation, including rare disease cohorts (Genomics England) and volunteer cohorts (Genes & Health). Her work focuses on developing computational strategies for disease-gene discovery and variant prioritisation.
She collaborates with a wide network of clinical geneticists, foetal medicine specialists, endocrinologists, ontologists, software developers, and cell and mouse biologists. Her research has contributed to the identification of novel neurodevelopmental genes and the development of bioinformatics tools and resources such as the Catalogue of Lethal Phenotypes and the Disease Models Portal, which support clinicians and researchers investigating the molecular basis of Mendelian disorders.
Her main line of research, built on more than eight years of involvement with the International Mouse Phenotyping Consortium, focuses on characterising the full spectrum of gene intolerance to variation. Pilar’s latest work investigates the genetic basis of miscarriage and stillbirth, with new funding from Barts Charity supporting efforts to identify, catalogue, and predict monogenic factors underlying these outcomes. Additional collaborative projects focus on establishing genotype-phenotype correlations in neurodevelopmental disorders and on investigating variants in regulatory regions contributing to endocrine phenotypes.
Teaching
Undergraduate Education:
- MBBS: PBL facilitator; Academic Advisor
Postgraduate Education:
-
MSc Genomic Medicine: Project supervisor; Workshop on 'Resources for Rare Disease Research'
-
MSc Bioinformatics: Project supervisor
-
PhD Supervisor (UKRI AIDD DTP, self-funded)
-
PhD Progression Panels (FMD, SBBS)
External Education Activities:
- PhD Examiner: University College London; University of La Laguna (Spain)
