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. The focus of Pilar´s 13-year research career, initially with a clinical neurogenetics group (Genomic Medicine, USC) and currently at the WHRI, has been to contribute to identifying the molecular basis of human disease and to improve our understanding of gene function.
The ultimate goals of Pilar’s research are to assist in diagnosing patients affected by rare disorders and to decipher the full spectrum of gene intolerance to loss-of-function variation. This works builds on her strong understanding of model organism data, phenotype ontologies and human genetics. Her main interest is in understanding the mechanisms leading to gene essentiality, and more specifically, to prenatal lethality in humans.
The research outputs reflect efforts to improve the diagnosis of Mendelian conditions by highlighting relevant models for human disease and leveraging information from model organisms, human cell line assays, and large-scale human sequencing studies to identify novel disease genes.
Research
Pilar is a Lecturer in Computational Biology with extensive expertise in genomics data curation, integration and analysis. Her work involves translating information from model organisms to human diseases and integrating multiple sources of evidence to design strategies for disease-gene discovery and variant prioritisation.
Pilar has an extensive network of collaborators in clinical genetics, foetal medicine, and endocrinology, as well as ontologists, software developers, and cell and mouse biologists through her roles as co-PI and senior key personnel in two large international consortia – the International Mouse Phenotyping Consortium (IMPC) and the Molecular Phenotypes of Null Alleles in Cells (MorPhiC). Her research has contributed to the identification of novel neurodevelopmental genes and the development of multiple bioinformatics tools and resources designed to support researchers and clinicians in variant prioritisation and novel disease gene discovery, including the Catalogue of Lethal Phenotypes and the Disease Models Portal. Recently funded research by the Barts Charity will expand on the investigation of prenatal manifestations, including prenatal and perinatal death in humans, aiming to identify, catalogue, and predict monogenic factors leading to this severe phenotypic outcome.
Additional projects focus on establishing genotype-phenotype correlations in neurodevelopmental disorders and linking variants to phenotypes across multiple large-scale human sequencing programs including the 100,000 Genome Project and Genes and Health. These efforts target a wide range of phenotypes, from infertility to congenital heart disease to aggressive cancers.
Publications
Complete list of published work
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Cacheiro P, Pava D, Parkinson H et al. (2024). Computational identification of disease models through cross-species phenotype comparison.
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Danis D, Bamshad MJ, Bridges Y et al. . A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
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Cacheiro P, Lawson S, Van den Veyver IB et al. (2024). Lethal phenotypes in Mendelian disorders.
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Duyzend MH, Cacheiro P, Jacobsen JOB et al. (2024). Improving prenatal diagnosis through standards and aggregation.
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Vetro A, Pelorosso C, Balestrini S et al. (2023). Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
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Cacheiro P, Spielmann N, Mashhadi HH et al. (2023). Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease.
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Cacheiro P, Smedley D (2023). Essential genes: a cross-species perspective.
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Groza T, Gomez FL, Mashhadi HH et al. (2023). The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
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Cacheiro P, Westerberg CH, Mager J et al. . Mendelian gene identification through mouse embryo viability screening.
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Dhombres F, Morgan P, Chaudhari BP et al. (2022). Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
View Profile Publication Page Teaching
Pilar is involved in various activities aimed at improving the statistical and programming skills of fellow researchers. These activities include teaching the ‘Introduction to Statistics and R’ course within the Researcher Development Program, coordinating a Code Review Clinic to promote data sharing and reproducible research in collaboration with members of the ITSR team, and organising Computational Workshops for staff and students within the WHRI. Additionally, she supervises students from the MSc in Bioinformatics (SBBS), MSc in Genomic Medicine (WHRI) and the UKRI-AIDD PhD (DERI) programs. She also serves as a PBL facilitator for first-year medical students.
