Skip to main content
The William Harvey Research Institute - Faculty of Medicine and Dentistry
  1. WHRI
  2. People
  3. Academic staff
  4. Items

Dr Pilar Cacheiro

Pilar

Senior Lecturer in Computational Biology

Centre: Clinical Pharmacology and Precision Medicine

Email: p.cacheiro@qmul.ac.uk

Profile

ORCID iD: 0000-0002-6335-8208

Pilar holds a BSc in Biology from the University of A Coruña, Spain, an MSc in Statistics, and a PhD in Molecular Medicine from the University of Santiago de Compostela, Spain. She joined Queen Mary University of London as a Postdoctoral Research Fellow in 2017 and was appointed Lecturer in 2023. She was promoted to Senior Lecturer in Computational Biology in 2025. 

Pilar has a multidisciplinary background in biology, statistics, molecular medicine and computational genomics, with an interdisciplinary approach to studying genetic variation, gene function and phenotypic outcomes. She integrates evidence from model systems and human cohorts to investigate gene intolerance to variation and genotype–phenotype relationships, supporting rare-disease gene discovery and diagnosis. She is also interested in developing standards, tools and resources that improve the interoperability of biological data and facilitate its interpretation across species and scales.

Research

Group members

  • Jerónimo Moreno-Cuesta, PhD student
  • Eibhlin Lonergan, PhD student (Co-supervisor)
  • Krishna Amim, PhD student (Co-supervisor)

Each year, students from our MSc Genomic Medicine, MSc Bioinformatics, and MSc Artificial Intelligence in the Biosciences programmes join us to undertake research projects, typically from March to December, with five MSc students in 2026.

Summary

Pilar’s research combines computational genomics, clinical genetics, and quantitative approaches to understand the impact of genetic variation on development and disease. She has extensive experience in the curation, integration, analysis and interpretation of genomic, phenotypic and functional data, including rare-disease cohorts such as Genomics England and population cohorts such as Genes & Health. She is also interested in combining clinical and evolutionary genetics to investigate how evolutionary processes influence patterns of genetic variation and disease outcomes.

A particular focus is understanding gene essentiality and why disruption of different genes can result in outcomes ranging from developmental lethality and disease to apparently tolerated variation. Building on more than nine years of involvement with the International Mouse Phenotyping Consortium (IMPC), she developed a framework that integrates systematic mouse knockout phenotypes with human cellular and population genetic data to characterise the spectrum of gene intolerance to loss-of-function variation. This work has supported disease-gene discovery, including the identification and characterisation of SPTBN1, TMEM63B and MAEA in neurodevelopmental disorders.

More recently, Pilar has extended this work to the genetics of human developmental outcomes, including miscarriage and stillbirth. She is using genomic data linked to longitudinal health records in Genes & Health to investigate monogenic factors contributing to pregnancy loss. Other collaborative projects explore genotype–phenotype relationships in neurodevelopmental disorders, the genetics of delayed puberty, the contribution of indirect genetic effects to developmental phenotypes, and the links between evolutionary processes and human genetic variation.

A complementary part of her research involves developing resources and standards that support the research community and enable the consistent representation and exchange of biological information. She has contributed to international initiatives including the IMPC, MorPhiC, the Human Phenotype Ontology and GA4GH Phenopackets, as well as the development of web-based resources for the research community. She collaborates with clinical geneticists, fetal medicine specialists, endocrinologists, evolutionary biologists, ontologists, software developers, and cell and mouse biologists to connect and interpret diverse sources of biological and clinical evidence.

Publications

  • Rekerle L, Danis D, Rehburg F et al. (2026). GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders. nameOfConference


  • Hough SH, Jhujh SS, Awwad SW et al. (2026). Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay. nameOfConference


  • Wilson R, Ataç TB, Cheng TK et al. (2026). International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease. nameOfConference


  • Rekerle L, Danis D, Rehburg F et al. (publicationYear). GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders. nameOfConference


  • Adli M, Przybyla L, Burdett T et al. (2025). MorPhiC Consortium: towards functional characterization of all human genes. nameOfConference


  • Cacheiro P, Pava D, Parkinson H et al. (2024). Computational identification of disease models through cross-species phenotype comparison. nameOfConference


  • Danis D, Bamshad MJ, Bridges Y et al. (publicationYear). A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. nameOfConference


  • Cacheiro P, Lawson S, Van den Veyver IB et al. (2024). Lethal phenotypes in Mendelian disorders. nameOfConference


  • Duyzend MH, Cacheiro P, Jacobsen JOB et al. (2024). Improving prenatal diagnosis through standards and aggregation. nameOfConference


  • Vetro A, Pelorosso C, Balestrini S et al. (2023). Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. nameOfConference


View profile publication page

Sponsors

Collaborators

Internal

External 

  • Julia Zollner (UCL, UK)
  • Ignatia Van den Veyver (Baylor College of Medicine, USA)
  • David Gorkin (Emory University, USA)
  • Raffaele Teperino (Helmholtz Munich, Germany)
  • Peter Robinson (Berlin Institute of Health at Charité, Germany)
  • Benoit Petit-Demouliere (Phen-ICS, France)

Teaching

Undergraduate Education:

  • MBBS: PBL facilitator; TBL content tutor; Academic Advisor; SSC marker
  • BSc Biomedical Sciences (BIO234 Advance Human Genetic Disorders): Lecturer; Marker

Postgraduate Education:

  • MSc Genomic Medicine: Project supervisor; Workshop on 'Resources for Rare Disease Research'
  •  MSc Bioinformatics: Project supervisor
  •  MSc AI in the Biosciences: Project supervisor
  •  PhD Supervisor (UKRI AIDD DTP, NIHR-MRC, Royal Free Charity)
  •  PhD Progression Panels (FMD, SBBS)
  •  Postdoc Mentor

External Education Activities:

  • PhD Examiner: University College London; University of Santiago de Compostela, Spain; University of La Laguna, Spain

Disclosures

No disclosures.

Back to top