Principal Investigator, Assistant Professor
Helena is a HiLIFE assistant professor in genome biology at the Faculty of Biological and Environmental Sciences and a research group leader at FIMM and NC.
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.
Doctoral Researcher
I graduated with honors and distinction with a Bachelor's degree in Bioinformatics from the American University of Beirut, Lebanon, during which I focused on the structural study of ApoE protein in Alzheimer's disease and dementia. I then pursued a joint Erasmus Mundus degree at URCA, AgroParisTech, France, and Aalto University, Finland, which allowed me to work and learn in multicultural settings. During my studies, I was motivated to integrate wet lab experiments with computational analysis to understand biological processes. I completed my Master’s thesis at the Kilpinen Lab in 2024, where my interest in single-cell RNA sequencing was sparked by its potential to reveal new insights into cellular diversity and function. My thesis involved creating a single cell atlas of human in vitro neurons using transcriptomic data. I am now expanding this work towards a PhD degree.
Doctoral Researcher
I graduated with a BSc in Cellular and Molecular Biology - Genetics in 2019 and developed an interest in the genetics of human diseases, particularly neuropsychiatric disorders. I pursued an MSc in human genetics from 2019 to 2021, and my thesis project was entitled "Gene expression analysis of vitamin-D signaling pathway and its related lncRNAs in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorders. In 2022, I joined the FIMM-EMBL International PhD program, where I completed my first rotation in the Kilpinen group. During this time, I conducted a project involving the analysis of single-cell RNA sequencing data, sparking my interest in utilizing induced pluripotent stem cells (iPSCs) to investigate neuropsychiatric disorders further. Currently, I am a PhD student jointly supervised by the Kilpinen and Hanna Ollila groups, focusing on understanding the shared genetic determinants between sleep conditions and neuropsychiatric disorders. My research involves both experimental and computational approaches, utilizing genetic data and medical histories from FinnGen and the UK Biobank. Additionally, I am aiming to model sleep phenotypes in iPSCs to better understand the relationship between sleep and neuropsychiatric disorders.
Research Assistant
I am currently pursuing a MSc degree in Genetics and Molecular Biosciences at the University of Helsinki, Finland. My MSc thesis project in the Kilpinen group involved the use of CRISPR-Cas9-based tools to engineer disease models for rare, neurodevelopmental disorders.
Doctoral Researcher
I'm currently working on my PhD as a joint project between the research groups of Dr. Kilpinen and Dr. Olli Pietiläinen from NC. After a BSc in Psychology at the University of Dundee, UK, I completed an MSc in Translational Medicine at the University of Helsinki, which sparked my interest in the molecular mechanisms and genetics of neuropsychiatric disorders. During my MSc research training, I had the chance to work on creating and validating CRISPR-Cas9 edited iPSC lines to model patient-specific mutations associated with mitochondrial diseases. I am especially interested in what the genome can reveal about disease risk and pathophysiology, and how it can be interpreted in an accurate and meaningful way to understand complex diseases. In my PhD project, I am using iPSC-derived neuronal disease models and high-throughput genomics and transcriptomics tools to understand functional consequences of dysregulation of gene expression in schizophrenia and intellectual disability.
Doctoral Researcher
I completed my Bachelor of Technology in Biotechnology at SASTRA University, India and developed an interest in molecular neurobiology after picking some interesting electives in Cell Signaling and Neurobiology in my final year. I then moved to Lund, Sweden to obtain my Master of Science in Molecular Biology from Lund University, Sweden. There, I had the opportunity to join Dr. Gesine Paul-Visse’s lab, focused on pericyte involvement in stroke and glioblastomas, as a summer trainee, and I was able to hone my laboratory skills. For my MSc thesis project, I worked with iPSCs for modelling Alexander’s disease using CRISPR-Cas9 editing in the Ahlenius lab at the Lund Stem Cell Center. Currently, in my PhD (iCANDOC), I am developing methods to characterize neuronal cells morphologically and functionally using high content image analysis and single cell genomics.
Laboratory Coordinator
I am the laboratory coordinator for the Kilpinen group. I obtained my BSc degree in human genetics at UCL (London, UK) after which I continued my studies in Sweden, obtaining my MSc degree in biomedicine from Karolinska Institutet. I had the opportunity to work in the group of Prof. Outi Hovatta, looking into the immunological properties of stem cell transplants in mice given immunosuppressive treatment, and stayed as a research assistant in the group after finishing my studies. Prompted by my interest in stem cells, I continued my studies at the University of Cambridge where I obtained a MSc in Research in Stem Cell Biology. Taking time off academia, I got a chance to live in Malaysia for two years followed by a stint in Switzerland where I worked for a scientific publishing company, Frontiers Media. In 2018 I returned to my native Finland, where I have worked as a laboratory coordinator at the University of Helsinki ever since, joining the Kilpinen group in June 2021. I am currently responsible for the day-to-day activities of the group as well as the stem cell work and other technical aspects for ongoing projects.
Research Assistant
I completed a Bachelor's degree in Bioinformation Technology at Aalto University, Helsinki, Finland. Currently, I am enrolled in the Master's Programme in Mathematics and Operations Research at Aalto, with a minor in Bioinformatics and Digital Health. My work focuses on developing methods to characterize neuronal cells morphologically using high-content image analysis. I am interested in how data science can improve our understanding of complex biological systems.
Research Assistant
Rare genetic disorders have been a common topic of discussion since early years of my life, which stemmed my passion for this field. After getting to know first-hand how tough the journey of acceptance and adaptation to an unexpected condition can be for the patients and their family, I became determined to address their questions and concerns through research. I completed a Bachelor's in Biomedical Sciences at the University of Barcelona, Spain in 2023. During my studies, I worked in Prof. Gemma Marfany's group, where we unveiled the molecular basis of inherited retinal dystrophies and explored gene therapy approaches. Currently, I am pursuing a Master's in Genetics and Molecular Biosciences at the University of Helsinki (2023-2025), supported by the “la Caixa” Postgraduate Fellowship Programme. In order to explore the possibilities that hiPSCs combined with high-throughput assays offer to model neurodevelopmental disorders, I am using CRISPR/Cas systems in hiPSC lines to describe underlying disease mechanisms as part of my MSc thesis.
Postdoctoral Researcher
I graduated in Biotechnology at the University of Girona, Catalonia, in 2013, and specialized in biochemical engineering after a short internship at the Molecular Cell Physiology Department from the Vrije Universiteit, Amsterdam. I shifted to computational work during an MSc in Bioinformatics for Health Science at Pompeu Fabra University. In 2015, I started my PhD in the Functional Genomics group lead by Dr. Robert Castelo. I searched for genetic modifiers of penetrance in human inherited disease, mainly focusing on a particular family disease case study of pulmonary arterial hypertension. I also participated in the development of the R/Bioconductor package GenomicScores, which enables a fast and seamless way to retrieve genome-wide position specific scores of conservation, allele frequency, constraint, fitness and deleteriousness. I received my PhD in early 2019 and joined Helena’s group as a postdoctoral researcher in Feb 2019. I was captivated by the ongoing projects on computational genomics of cellular variation. In line of my previous research, I am very interested in understanding how the genetic background may impact the penetrance and the variable expressivity of pathogenic mutations in rare disease. I will address this question by using iPSC-based disease models directly obtained from patients and profiled by different omics tools, including scRNA-seq and ATAC-seq data. My post-doc is a collaborative project with Prof. Sergi Castellano (UCL).
Doctoral Researcher
I completed my BSc in Biotechnology from Ramaiah Institute of Technology in Bangalore, India, and my MSc in Genetics and Molecular Biosciences in the University of Helsinki. My BSc thesis, conducted at the Indian Institute of Science, was 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. Based on this interest, I carried out my MSc thesis project in the Kilpinen group focused on single cell and molecular characterization of neurodevelopment in vitro. Currently, in my PhD, I work both experimentally and computationally to study cellular models of neurodevelopment and pooled iPSC-based approaches for neurodevelopmental disease modeling.
Postdoctoral Researcher
I am a postdoctoral researcher at FIMM, University of Helsinki, working in both the Ganna Lab and the Kilpinen Lab. I received my PhD from Sun Yat-sen University, China, in 2024. My research focuses on statistical genetics and genetic epidemiology. During my PhD, I studied the genetic relationships between molecular traits and human complex traits to uncover the mechanisms behind complex traits—how genetic variation shapes phenotypes and which proteins or RNAs mediate these effects. I now continue to analyze genetic and multi-omics data, especially from FinnGen, focusing on individuals at the extremes of polygenic scores (PGS) distributions to study the genetic mechanisms underlying psychiatric and neurological disorders.