People

Ian has been involved in genomics since around the time the term was coined.

He obtained his D. Phil from Oxford University in 1989, determining the long-range structure of the human MHC. During his postdoctoral studies he worked with the genomic pioneer Maynard Olson in St Louis, before returning to the UK to construct a physical map of human chromosome 22. At the Sanger Centre from 1993 his work focussed first on genome sequencing including the first human chromosome sequence in 1999, and subsequently on developing functional maps of the human genome. This included gene structure maps, variation maps, and the first chromosome-wide linkage disequilibrium map.

Recently Ian’s research interests include experimental and computational approaches to genome-wide mapping of regulatory elements and chromatin state in the human genome as part of the NHGRI ENCODE project, as well as understanding the influence of variation on regulatory elements in human and other organisms. Since 2007, Ian has been at the European Bioinformatics Institute (EMBL-EBI) located in Cambridge, UK.

David has a PhD from the University of Cambridge in Organic Chemistry and conducted postdoctoral research at the University of Toronto in Canada.

He joined GSK in 2007 initially in the Process Chemistry group to develop manufacturing processes for small molecule therapies. Through his time at GSK he has held project leadership and line management roles in R&D and led research and technology transfer programmes between R&D and Global Manufacturing. Before joining Open Targets David was engaged in developing and implementing strategic projects for GSK through a secondment to the office of the CEO and CFO as part of the CEO’s Future Strategy Group.

As Operations Director, David oversees the management of a number of informatics and experimental target validation projects as well as ensuring the strategic deployment and operational translation of Open Targets.

Ellen (Ellie) McDonagh joined the Open Targets as the Informatics Science Director in April 2020.

Prior to joining the Open Targets team, she was the Head of Curation and Pharmacogenomics at Genomics England. She helped pioneer a crowdsourcing platform (PanelApp) for the expert review and curation of gene panels, which are used in genome interpretation for rare disease and cancer patients and the NHSE Genomic Medicine Service.

Ellie also led projects to expand the scope of information analysed in patient genomes. These included health-related additional findings, and evidence-based pharmacogenetics to support the prediction of drug responses to improve patient safety and therapeutic outcomes.

Before joining Genomics England, she worked as a Scientific Curator at the Pharmacogenomics Knowledge Base (PharmGKB). In this role, she produced clinical guidelines regarding therapeutic recommendations based on a patient’s genotype, provided critical assessment of evidence for gene-drug associations, and published genetically associated pharmacokinetic/pharmacodynamic pathways.

She is on the Science and Industry Advisory Board (SIAB) for ELIXIR-UK and the Steering Committee for The UK Pharmacogenetics and Stratified Medicine Network, and is an active member of the Clinical Pharmacogenetics Implementation Consortium.

Gosia Trynka leads the Immune Genomics group at the Wellcome Sanger Institute.

Her group is focused on translating genetic variants associated with immune diseases to function. The group combines immune cell assays with a broad genomic toolkit (from chromatin activity mapping through large scale single cell RNA-seq studies to CRISPR screens) to understand the role of human genetic variation in regulating the immune system.

Gosia earned her PhD in 2011 from the University of Groningen, the Netherlands under the supervision of Prof. Cisca Wijmenga. During her PhD she became actively involved in international efforts that used genome wide association studies (GWAS) to map variants predisposing to immune diseases. She then undertook postdoctoral training at Brigham and Women’s Hospital and the Broad Institute of Harvard and MIT in Boston where she joined groups of Dr Soumya Raychaudhuri and Dr Robert Plenge. Her work included development of methods that integrate GWAS variants with functional genomics readouts to inform the role of disease associated variants, e.g. in nominating causal cell types.

Birgit has been actively engaged in establishing technology transfer at the European Molecular Biology Laboratory (EMBL) more than 16 years ago and over the years she held various positions at EMBL’s technology transfer arm, EMBLEM.

In addition, she is currently responsible for business development at EMBL-EBI and Open Targets. Birgit has been engaged in starting companies out of EMBL, as well as in managing and licensing intellectual property in a number of fields with biotech and large pharma companies as customers.

She holds a diploma in biology from Philipps-University Marburg, did her PhD work in molecular developmental genetics at the Max-Planck-Institute for biophysical chemistry in Goettingen with Michael Hoch and a postdoc with Stephen Cohen at EMBL Heidelberg. She is a member of BIO Deutschland and the Licensing Executives Society as well as an alumna of St Gallen Business School, CEIPI, Boehringer Ingelheim Fonds, DFG and EMBO.

Jason is Senior Principal Scientist, Functional Genomics at Pfizer. He leads a team that is using functional genomics tools for target identification and validation across diverse therapeutic areas.

Jason received his Ph.D. from Harvard University, where he studied mechanisms of human cell transformation at the Dana-Farber Cancer Institute. He did postdoctoral research at the Fred Hutchinson Cancer Research Center, exploring circulating microRNAs as cancer biomarkers and developing a microRNA-based screening system. Expanding beyond his initial focus on oncology, Jason joined the Broad Institute as a Research Scientist and developed functional genomics screens for target discovery in mitochondrial disease.

Shameek is a Principal Scientist in the Research Analytics group working on TIDVAL and biomarker studies in neurodegeneration. He is focused on statistical fine mapping of GWAS hits and generating disease evidence by integrating genetics with molecular profiling and clinical data.

Prior to joining Celgene in 2016, he spent seven years in Novo Nordisk working on target validation and patient stratification for inflammatory and metabolic conditions. He received his Ph.D. in Genome Sciences from University of Washington in 2010, where he worked on problems in population genetics and eQTL analysis.

Hayley joined the SLT in May 2022. She is Director – UK External Collaborations, Strategic Partnerships at GSK, previously Hayley worked at Wellcome Sanger Institute.

Mathew leads the Translational Cancer Genomics laboratory and Genomics of Drug Sensitivity in Cancer Project at the Wellcome Sanger Institute. Mathew’s team uses high-throughput drug sensitivity screens and genome-editing technology in cancer and normal human cells to understand how cancer genes contribute to disease and to facilitate the development of new treatments.

After obtaining a BSc in Biochemistry (Hons.) at the University of British Columbia, Canada, Mathew completed his PhD with Prof. Richard Marais at the Institute of Cancer Research (London, UK) on the characterisation of BRAF as a cancer gene. In 2005 Mathew moved to the laboratory of Prof. Ashok Venkitaraman (Cambridge, UK) for his post-doctoral research, where he discovered a new regulator of cell division. Mathew joined the Wellcome Sanger Institute in 2009.

Emily Holzinger is a Principal Scientist in the Informatics and Predictive Sciences department at BMS, where she works with a team of computational scientists that combine human genetics with complementary data types to guide the discovery and development of novel therapies for immunological, cardiovascular, and fibrotic diseases.

Prior to BMS, she worked at Merck & Co (MSD), where she used human genetics to identify novel drug targets and to support specific drug development programs. Emily received her MS in Applied Statistics and PhD in Human Genetics from Vanderbilt University in 2013. She then completed a postdoctoral fellowship in the Computational and Statistical Genomics Branch of the National Human Genome Research Institute at the National Institutes of Health.

Xinli Hu is Director of Human Genetics in Pfizer’s Systems Immunology group.

Her career in genomic sciences began at the Broad Institute as a genetic and flow cytometric data analyst after earning a Bachelor of Science in Bioengineering from the University of Washington in Seattle. In 2015 she earned her PhD from Harvard University upon completion of thesis research studying the genetics (including HLA fine-mapping) and cell-specific functional genomics in autoimmune diseases, under the supervision of Dr. Soumya Raychaudhuri at the Broad Institute and Brigham and Women’s Hospital. She also received an MD degree from Harvard Medical School.

Xinli joined Pfizer in 2016 and now leads the human genetics group at Pfizer’s Inflammation and Immunology Research Unit. Her team focuses on translating genetics and epigenetics findings into evidence supporting drug targets, with an emphasis of integrating genetics with orthogonal multi-omics data types including functional genomics.

Donald is Head of Precision Oncology Bioinformatics at Sanofi.

He is an experienced bioinformatician with expertise in target discovery, target validation and biomarker discovery for oncology and immuno-oncology.

Shameer Khader is an Executive Director of Precision Medicine and Computational Biology at Sanofi, Cambridge MA. He leads a global team that leverages trans-disciplinary (biomedical, healthcare, and clinical) big data and machine intelligence approaches to accelerate drug discovery, development and repurposing. He has more than a decade of experience building and leading bioinformatics and data science in academia and industry. Prior to Sanofi, he was Senior Director of Machine Learning Research at AstraZeneca, USA and lead precision medicine and data science teams at leading health systems (Mayo Clinic, Mount Sinai and Northwell Health) and healthcare technology companies (Philips).

He obtained his PhD in computational biology from the National Center for Biological Sciences in India and completed his MPH from Imperial College, London. He completed his post-doctoral training in computation genomics and precision medicine at the Mayo Clinic. His contributions to biomedicine using applied machine intelligence includes more than 130 peer-reviewed research papers and conference abstracts.

Multiple national and international media outlets featured his work on healthcare data science, bioinformatics, drug discovery, and precision medicine, including Forbes, Fast Company, Bloomberg News, and Times of India. He received multiple awards for his research contributions; His work on developing an open catalog of drug repositioning has won the Swiss Institute of Bioinformatics’ Bioinformatics Resource Innovation Award in 2017. Recently, he was recognized as one of the 100 Artificial Intelligence Leaders in Drug Discovery & Healthcare (DKI Global and Forbes). He gave a TEDx Talk on Saving Lives Using Biomedical Data Science.

Maria is the Team Leader of Protein function developments at EMBL-EBI. She manages the bioinformatics infrastructure of the Universal Protein Resource (UniProt), the world leading database of classified and functionally annotated protein sequences. Her group also manages and develops software for the Gene Ontology annotation and the Enzyme portal projects.

She holds a M.Sc. in Veterinary Medicine and a PhD in Molecular Biology and Bioinformatics, and she has been working in developing infrastructure for scientific data for 19 years. Her research interests include the study of novel methods for protein function prediction, and protein annotation and visualization.

Mark McCarthy joined the SLT in 2022. He is Principal Fellow at Genentech, Executive Director of Human Genetics and co-lead of Translational Genomics.

Prior to his move to Genentech in 2019, Mark was the Robert Turner Professor in Diabetic Medicine at the University of Oxford.

Nikolina joined the SLT in May 2022. She is a senior director at GSK with expertise in functional genomics and genetics of complex disorders. Leading a team of computational biologists focused on translating genetic signals into medicines. Driven by passion for science and desire to make a positive impact in the lives of patients.

Evangelia Petsalaki’s research group studies human cell signalling in healthy and disease conditions. The group uses interdisciplinary approaches, including data-driven network inference, modelling of cell processes and data integration, to understand how different environmental or genetic conditions affect cell signalling responses leading to diverse cell phenotypes.

Evangelia has a PhD in structural bioinformatics from EMBL and the University of Heidelberg (2009) and did her post doctoral work at the Lunenfeld-Tanenbaum Research Institute in Toronto, Canada (2010-2016).

Orit Rozenblatt-Rosen joined the SLT in 2022. She is Senior Fellow at Genentech, Executive Director of Cell and Tissue Genomics and co-lead of Translational Genomics.

Orit is a pioneer in single cell genomics technologies and their application to tissues in order to better understand health and disease. Prior to her move to Genentech in 2020, Orit was the Scientific Director of the Klarman Cell Observatory at the Broad Institute of MIT and Harvard.

Photo credit: Maria Nemchuk

Roser joined the SLT in May 2022. Roser leads a research team at the Wellcome Sanger Institute. Roser’s research is focused on the adaptation of immune cells in tissues and their function in steady state and inflammation. Her team uses genomics, spatial transcriptomics and bioinformatics tools to reconstruct the microenvironment that will shape immune cellular identity and function.

Sally is a Research Administrator in Open Targets.

She trained in accountancy, before returning to University to study law and then governance as a postgraduate. She has worked across all sectors of business, in local government, and the charity sector.

She began working in research at the University of Nottingham where she was an operations manager before moving to the Sanger Institute to be a research administrator in the Human Genetic programme. In this role she provided programme and project support across multiple disciplines to ensure the delivery of programme objectives and strategically important projects.

Helena Cornu is responsible for all communications involving Open Targets. This includes our social media, blog, newsletters, and press releases.

With a degree from the University of Edinburgh, Helena’s background is in biomedical sciences, and has previous experience in science journalism and podcasting.

Paris is the Open Targets Senior Administrator and provides day-to-day support to our Executive Leadership Team.

Paris has over 10 years experience working as an administrator and has worked on the Wellcome Genome campus for the past 7 years learning lots about the way of working within both Sanger and EBI.

Sarah is the Open Targets Data Manager and joined the team in July 2021.

Prior to joining the Open Targets team, Sarah worked as a Case Investigator with Texas A&M Health Science Center on a COVID-19 contact tracing project and completed a Master of Public Health (MPH) in Epidemiology with a concentration in genomics and bioinformatics.