Simone Rubinacci is a Group Leader at FIMM and a Research Fellow at Brigham and Women's Hospital and Harvard Medical School. He earned his DPhil from the Department of Statistics at the University of Oxford.
Simone's research leverages large-scale genomic datasets to uncover genetic relationships within individuals and across populations. His work focuses on identifying shared chromosomal segments (haplotypes) and exploring how genetic variation shapes diversity and influences disease. A significant aspect of his research involves developing statistical methods to extract meaningful insights from noisy genomic data, such as low-coverage whole-genome sequencing and SNP arrays. Currently, his primary focus is on characterizing structural variation in human genomes and investigating its implications for health. This research spans applications ranging from understanding population structure to uncovering the genetic basis of diseases, bridging fundamental genetic insights with translational applications.
Maarja defended her PhD in Bioinformatics at the University of Tartu, Estonia, where her thesis focused on the quality assessment and phenotypic associations of microarray-derived copy number variations in the Estonian Biobank cohort. She subsequently explored the highly polymorphic allelic landscape and structural rearrangements of the pharmacogene CYP2D6.
Currently, as a postdoctoral researcher in the lab, Maarja’s research centres on dissecting the contribution of a broader set of structural variations and tandem repeats to human trait variability and disease risk. By leveraging large-scale biobank datasets alongside haplotype-informed variant discovery and imputation methods, she aims to advance the current understanding of the genetic architecture underlying complex phenotypes.
In her spare time, she loves spending time outdoors on hiking trails or at home building LEGO creations with her children.
Dr. Francesca Rosamilia is a biologist with a PhD in Biostatistics from the University of Genoa (2024). She specializes in human genomics and biostatistics applied to complex diseases, such as Hirschsprung's disease.
Her doctoral project integrated whole-exome sequencing (WES), genome-wide association studies (GWAS), and proteomic data from patients with HSCR to identify genetic and molecular signatures associated with clinical variability and disease risk, and to study the interaction between rare and common variants.
Francesca refined her skills in high-dimensional data analysis and biobanks during her time as a Visiting PhD student at Columbia University Medical Center in New York.
Théo has a background in biology and bioinformatics, with a strong interest in human genetics, evolution, and the molecular basis of complex traits. He uses computational methods to study inheritance patterns and trait regulation in large-scale biobank datasets. Outside the lab, he enjoys bouldering, hiking, and music.
Marinella is studying in the Life Science Informatics master’s program at the University of Helsinki with a bachelor’s degree in computer science. She is interested in using and developing computational methods to better understand the genomics of complex diseases and traits. In the lab she is developing a method for pharmacogenomics for genotyping CYP2D6 and using that to analyze drug purchase trajectories.
Sara is a FIMM-EMBL PhD student joining us for a rotation of three months (December 2025 to Febrary 2026). Sara's focus is on read depth analysis of whole-genome sequencing data in the UK Biobank.