Dr. Helena Kilpinen leads a research group at the Genetics and Genomic Medicine programme at the UCL Great Ormond Street Institute of Child Health in London, UK. She is a MRC eMedLab Career Development Fellow in medical bioinformatics and holds an appointment also at the Cellular Genetics programme at the Wellcome Trust Sanger Institute in Cambridge, UK. Helena received her PhD from the University of Helsinki, Finland, where she studied the genetic mechanisms underlying autism spectrum disorders. She then transitioned to functional genomics, using next-generation sequencing –based assays to study how DNA sequence variation influences different levels of gene regulation in human cells, first at the University of Geneva, Switzerland, and later at the EMBL-EBI in Cambridge, UK. She joined the Human Induced Pluripotent Stem Cells Initiative (www.hipsci.org) in 2014 and has since focused on the functional characterization of genetic variation in induced pluripotent stem cells (iPSC). Helena’s current research combines computational and experimental methods to comprehensively model the cellular disease mechanisms of rare human diseases with high-dimensional molecular datasets from iPSCs and iPSC-derived cell types.