Macarena Fuentes-Guajardo's research asks how genetic variation shapes the human face and dentition, with a sustained focus on ethnically diverse and admixed populations that remain underrepresented in genomics.

She trained as a Biomedical Scientist at Universidad de Tarapacá in Arica, Chile, where she also completed an MSc in Biological Sciences with a mention in Biology of High Altitude. She was awarded her PhD in Human Evolutionary Genetics by University College London in 2019. Craniofacial genetics sits at the centre of her work. As first author of a genome-wide association scan published in Nature Communications, she implicated DCHS2, RUNX2, GLI3, PAX1 and EDAR in normal-range facial variation, one of the earliest studies to map face shape loci in a Latin American cohort. She has co-authored genome-wide studies of ear morphology, and later work in Science Advances identifying VPS13B and a Denisovan-introgressed region associated with face shape. A subsequent study in Communications Biology used automatic landmarking to expand the catalogue of face morphology loci and traced Neanderthal introgression in the genetics of nasal shape.

Her dental research runs in parallel. She contributed to multiomics analyses published in Current Biology that implicated PITX2 and HS3ST3A1 in dental crown dimensions, with HS3ST3A1 further suggested as a contributor to tooth size reduction across hominins. She has also worked on the geometric morphometrics of shovel-shaped incisors, variation in dental morphology as an indicator of continental ancestry, and the effects of age, sex and genomic ancestry on dental size in admixed Latin Americans. This work draws heavily on the CANDELA consortium, with which she has been a researcher since 2011, and extends to related phenotypes including facial asymmetry, skin pigmentation, hair morphology and skin ageing.

Beyond morphology, she has published on genetic ancestry across Chile and Latin America, high-altitude adaptation in Aymara populations, and the host genetics of COVID-19 and long COVID. In total she has authored more than 40 peer-reviewed papers. She has led research funding as Principal Investigator on projects with the Genetics Society, the Institut Pasteur and Chile's National Agency for Research and Development and directed the Uasara Genetics and Genomics Centre in Arica, Chile. At King's she is building an independent genomics group in craniofacial and dental biology while contributing to teaching through inclusive methods.

Links to recent publications:

• Genome-wide association study of long COVID. Nat Genet, 2025.
  https://doi.org/10.1038/s41588-025-02100-w
• PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans. Curr Biol, 2025.
  https://doi.org/10.1016/j.cub.2024.11.027
• The Chilean COVID-19 Genomics Network Biorepository. Genes, 2024.
  https://doi.org/10.3390/genes15111352
• Neanderthal introgression in SCN9A impacts mechanical pain sensitivity. Commun Biol, Oct 2023.
  https://doi.org/10.1038/s42003-023-05286-z
• A second update on mapping the human genetic architecture of COVID-19. Nature, Sep 2023.
  https://doi.org/10.1038/s41586-023-06355-3
• Automatic landmarking identifies new face morphology loci and implicates Neanderthal introgression in human nasal shape. Commun Biol, May 2023.https://doi.org/10.1038/s42003-023-04838-7