Over the past fifteen years, I have applied primate genomics to study human evolution, with direct relevance for conservation genomics. In 2023, my team helped generate reference genomes for half of the world’s primate species, creating a foundational resource for biodiversity research, medical genetics, and evolutionary biology. Building on earlier discoveries of human-specific structural variation and great-ape genomic diversity, my laboratory has developed new approaches to interpret the functional impact of regulatory changes across humans and other apes. I have authored more than 230 peer-reviewed papers supported by ERC and NIH funding, and have served the community through leadership roles such as Director of the Institute of Evolutionary Biology (UPF-CSIC) and founder of the Barcelona Zoo Cryozoo. I am a member of the Royal Academy of Sciences in Spain, and have received the Premi Ciutat de Barcelona (2024) and the Ramon y Cajal Medal (2025).
Research interests
My research focuses on comparative and evolutionary genomics to uncover the genetic basis of human uniqueness and to inform biodiversity and conservation science. By analyzing genome variation, epigenomes, and transcriptomes across humans and non-human primates, my group investigates how genome variation, regulatory changes, and other genomic features have shaped species differences and adaptation. We integrate diverse genomic data to understand the origins and functional impacts of genetic variation, elucidate human-specific traits, and explore evolutionary processes from great apes to other mammals. Our work generates key resources and analytical frameworks that advance knowledge in evolutionary biology and conservation genomics, helping to interpret human disease variation and to guide strategies for protecting endangered species.
Selected publications
- Orkin JD et al., 2025 “Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar” 'Nature ecology & evolution', 1-15
- Ostridge, HJ et al. 2025, 'Local genetic adaptation to habitat in wild chimpanzees', Science, 387 - 6730 -eadn7954.
- Ringbauer, H et al. 2025, 'Punic people were genetically diverse with almost no Levantine ancestors', Nature.
- Madupe, PP et al. 2025, 'Enamel proteins reveal biological sex and genetic variability in southern African Paranthropus', Science, 388 - 6750 - 969 - 973.
Selected research activities
Ramon y Cajal Medal 2025 from the Royal Academy of Sciences of Spain.