directly to email@example.com. We welcome students and postdocs from various disciplines and backgrounds as long as their research interests align with the group.
Principal Investigator, Assistant Professor
Helena received her PhD from the University of Helsinki in 2011 where she studied the genetic mechanisms underlying autism spectrum disorders. For her postdoctoral training, she transitioned to functional genomics, studying how DNA sequence variation influences different levels of gene regulation in human cells, first at the University of Geneva, Switzerland, and then at the European Bioinformatics Institute (EMBL-EBI) in Cambridge, UK.
Helena started her research group in 2016, jointly at the UCL Great Ormond Street Institute of Child Health in London and the Wellcome Sanger Institute in Cambridge, UK, where she held a MRC eMedLab Career Development Fellowship in Medical Bioinformatics. Helena's group moved to the University of Helsinki in June 2020.
Rosa completed her PhD in human/medical genetics at the Medical Neurogenetics group at the University of Helsinki in 2021 with focus on characterization and modeling of a rare neurological syndrome. During her doctoral training, she was also a visiting researcher at King’s College London, completing a project on gene editing of human induced pluripotent stem cells. Prior to her doctoral studies, she completed a master’s degree in neuroscience from the University of Helsinki focusing on axon degeneration diseases using stem cell based neuronal model systems. Rosa has also undertaken research in the ERASMUS Medical Center in the Netherlands and RIKEN Brain Science Institute in Japan in the field of neuroscience, and completed a bachelor’s degree in psychology and cognitive neuroscience from the University of Nottingham, UK.
In her postdoctoral research, Rosa is studying cellular phenotypes in neurodevelopmental disorders by stem cell based neuronal model systems. She uses next generation sequencing technologies including single cell RNA sequencing, and complementary high-content imaging to identify disease phenotypes in patient and gene edited neurons. She is also interested in compound screening to reverse disease phenotypes that could be used in development of therapies for rare diseases.
I took my first steps in the academic world at the University of Nantes (France) and graduated with a master’s degree in Bioinformatics in 2016. Next, I pursued a Ph.D. supervised by Dr. Laurent David and Pr. Jérémie Bourdon at the Center for Research in Transplantation and Immunology in Nantes. This work focused on human preimplantation development, first with the characterization of naive (preimplantation like) pluripotency. The second part of my Ph.D was the study of the cell fate events during preimplantation development using single-cell RNA-Seq. At the beginning of my research, RNA-Seq and especially single-cell transcriptomics were emerging technologies: the analysis of data produced by these techniques was, and remains, a computational and statistical challenge that led me to specialize in these tasks. I am also particularly interested in understanding the mechanisms underlying cell fate. I joined the Kilpinen group in January 2021 as a postdoctoral fellow where I am investing how neurodevelopmental disorders affect cell trajectories during neurogenesis.
I am a master’s student in the Genetics and Molecular Biosciences program at the University of Helsinki, in the Genetics and Genomics track. I received my bachelor’s in Biotechnology from Ramaiah Institute of Technology in Bangalore, and I completed my bachelor’s thesis at the Indian Institute of Science, Bangalore on the topic of regulatory mechanisms in X-chromosome inactivation. Previously, I have worked in human molecular genetics and molecular diagnostics, studying the association of genetic variation with disease phenotypes as well as utilizing known variants in clinical diagnosis. This led me to develop a keen interest in understanding how these combined genotypic effects not only associate with disease, but contribute to shaping the disease phenotypes at a molecular and cellular level. Within the Kilpinen group, I will be studying the impact of genetic variation in pooled iPSCs on cellular growth dynamics in association with neurodevelopmental disorders.