People

Helena Kilpinen, PhD

Helena leads a research group dsc_0010modsmallat the Genetics and Genomic Medicine programme at the UCL Great Ormond Street Institute of Child Health, London. She is an MRC eMedLab Career Development Fellow in Medical Bioinformatics and has an appointment also at the Cellular Genetics programme at the Wellcome Sanger Institute, Cambridge.

Helena received her PhD in 2011 from the University of Helsinki, Finland, where she studied the genetic background of autism spectrum disorders with Prof. Leena Peltonen-Palotie and Dr. Iiris Hovatta. During her postdoctoral time she 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, with Prof. Emmanouil Dermitzakis, and later at the EMBL-EBI in Cambridge, UK, with Dr. Oliver Stegle. Helena joined the Human Induced Pluripotent Stem Cell Initiative (HipSci) in 2014 and has since focused on characterising non-coding genetic variation in induced pluripotent stem cells (iPSC), most recently in the context of rare human diseases.

Dara Vakili, B.Sc.

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I first joined the group in the summer of 2016 as an undergraduate student in my final year of UCL Applied Medical Sciences BSc. I am currently studying medicine at Imperial College London. Having done placements in microbiology and tissue engineering labs, I now aspire to be a part of the big data revolution in healthcare and science. I am deeply fascinated by the discoveries around the human genome, especially findings in cancer genomics, and the translation of these to medicine. Currently, I am studying iPSC cell lines from the HipSci project and comparing profiles of gene expression and alternative splicing in patient-derived cells to improve our understanding of these as disease models.

Anna Saukkonen, B.Sc.

AnnaSaukkonenI graduated from the University of Aberdeen with a BSc in Biochemistry. I am currently in my first year of the LIDo PhD programme doing a project with Helena’s group and Dr. Alan Hodgkinson’s group (KCL). Having a wet research laboratory background, I am excited to now move into the computational biology field. In my project I am looking at allele-specific expression from data generated by the HipSci project. Differential levels of gene expression associated with distinct genotypes are most often studied on a population level and with common genetic variants. This approach, although informative, often misses the important rare variants. In my project I am tackling these issues by looking at allele-specific expression within single individuals, using the full information of their genomes.

Pau Puigdevall Costa, PhD

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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 Dr. Sergi Castellano (ICH).

Alumni

Nicola Maestro, M.Sc. – Research Assistant
Prijesh Mulji, B.Sc. – MRes project student