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The William Harvey Research Institute - Faculty of Medicine and Dentistry

Dr Pilar Cacheiro


Lecturer in Computational Biology

Centre: Clinical Pharmacology and Precision Medicine



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 12-year research career, initially at 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 the diagnosis of patients affected by rare disorders and to decipher the mechanisms leading to gene essentiality and more specifically to prenatal lethality in humans, building on her strong understanding of model organism data, phenotype ontologies and human genetics.


Pilar is a Lecturer in Computational Biology with extensive expertise in the analysis and interpretation of genetic and phenotypic data from rare disease patients and model organisms to inform on human disease. Pilar is involved in several projects aimed at deciphering the full spectrum of gene intolerance to variation and developing new machine learning and network approaches to prioritise candidate variants and genes in large-scale sequencing studies, with a particular emphasis on neurodevelopmental disorders. Her interests include gene essentiality, phenotype ontologies, statistics and R.

Key Publications

  1. Groza T, Gomez FL, Mashhadi HH, …, Cacheiro P, …, Parkinson H. The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease. Nucleic Acids Res. 2023;51(D1):D1038-D1045.
  2. Cacheiro P, Spielmann N, Mashhadi HH, et al. Knockout mice are an important tool for human monogenic heart disease studies. Dis Model Mech. 2023;16(5):dmm049770.
  3. Vetro A, Pelorosso C, Balestrini S, …, Cacheiro P, …., Guerrini R. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023;110(8):1356-1376.
  4. Cacheiro P, Westerberg CH, Mager J, et al. Mendelian gene identification through mouse embryo viability screening. Genome Med. 2022;14(1):119.
  5. Dhombres F, Morgan P, Chaudhari BP, …, Cacheiro P, …, Robinson PN. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. Am J Med Genet C Semin Med Genet. 2022;190(2):231-242.
  6. 100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, …, Cacheiro P, …, Caulfield M. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021;385(20):1868-1880.
  7. Cousin MA, Creighton BA, Breau KA, …, Cacheiro P, …, Lorenzo DN. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021;53(7):1006-1021.
  8. Cacheiro P, Muñoz-Fuentes V, Murray SA, et al. Human and mouse essentiality screens as a resource for disease gene discovery. Nat Commun. 2020;11(1):655. Published 2020 Jan 31. 



Sasha Howard (WHRI); Claudia Cabrera (WHRI)


Mary Dickinson, Ignatia Van den Veyver (Baylor College of Medicine, USA); Thomas Vierbuchen, Danwei Huangfu (Memorial Sloan Kettering Cancer Center, USA)


Pilar is involved in different activities to improve other researcher's statistical an programming skills, including teaching the Introduction to Statistics and R course within the Researcher Development Program and coordinating a Code Review Clinic to enable data sharing and reproducible research in collaboration with members of the ITSR team. She supervises students from the MSc in Bioinformatics (SBBS), MSc in Genomic Medicine (WHRI) and the UKRI-AIDD PhD (DERI) programs.


No disclosures.

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