DNA Digest

Interview with Head of ELIXIR’s Human Genomics and Translational Data

In Europe, Oncology, precision medicine, Uncategorized by Karina KusovaLeave a Comment

SerenaScollen-250Our supporting partner DNAdigest got in touch with one of our speakers at BioData World Congress- Serena Scollen, Head of Human Genomics and Translational Data at ELIXIR. Serena will be speaking about maximising opportunities to use human genomics data and about how ELIXIR enables this through European collaborations.

We want to share some snippets of the interview and you will be able to access the full interview below.

1. Please introduce yourself, your background and your specific role in ELIXIR. Our audience is familiar with ELIXIR already – we interviewed Niklas Blomberg a year ago.

“I joined the ELIXIR Hub recently as Head of Human Genomics and Translational Data (ELIXIR is the European infrastructure for bioinformatics and life-science data). Prior to joining ELIXIR, I was a Director within the Human Genetics and Computational Biomedicine group at Pfizer. In this role, I led and implemented a genetic and precision medicine strategy to support drug target selection and clinical programmes for the Pain and Sensory Disorders Research Unit. Earlier in my career, I worked within the Toxicogenomics group at GlaxoSmithKline. I gained postdoctoral experience at the University of Cambridge and Imperial College London and a PhD from the University of Cambridge, with a focus on the genetic susceptibility to disease. I have always been passionate about trying to advance understanding of the genetic predisposition of human disease mechanisms. Throughout my academic and industrial careers, I have had to drive innovative ways to access and generate data, working nationally and internationally, so I am very excited about applying these skills to develop a data infrastructure for maximizing discovery in this very impactful area of research.”

2. You started in this new role a few months ago. What have you done so far and what are your future plans?

“Within ELIXIR, one of the priority areas of focus is human data. Due to advances in technology this field of research is facing a shift in challenges away from data generation and towards data management. Europe has a plethora of data held within research institutes, cohorts, biobanks, pharmaceutical companies, health services and other resources, each with different assets. We need to implement a strategy to enable researchers from all sectors to find, manage, share and reuse human data whilst also preserving data privacy and respecting the national data privacy laws of the country of origin. ELIXIR aims to construct and operate a sustainable and long-term infrastructure for Human Genomics and Translational data in Europe. By doing this, it will allow data users to do what they do best – produce and analyse data. My role is to work with ELIXIR’s data resources, run by ELIXIR Nodes in our Member States, and external stakeholders to implement a comprehensive, ELIXIR-wide approach to the management, archiving and responsible sharing of human research data consented for reuse in scientific research. There are over 160 institutes that are affiliated with ELIXIR, many of which are actively working with sensitive human data. I am currently developing a portfolio of projects funded through ELIXIR’s budget and external grants with the aim of connecting European centres and facilitating responsible data sharing. As an example, several ongoing projects centre around the European Genome-phenome Archive (EGA) run by our nodes at EML-EBI and in Spain. In short, our goal is to bring the EGA closer to the user – be it in the form of better data discovery services (Beacons) or in the form of local storage facilities (local EGA). In addition, I am scoping European and global initiatives with a view to aligning ELIXIR’s portfolio of services for human research data with efforts such as the Global Alliance for Genomics and Health.

The plan is to have infrastructure in place to access, link and analyse data as well as enable interoperability, manage security and ensure sustainability. To do this effectively, we need to work together as a community within Europe and globally to link data (both genotypic and phenotypic) from multiple centres/cohorts/initiatives to achieve a scale that cannot be achieved by any one centre or cohort and in turn realise the potential and value of big data in human genomics. The impact of this will be seen through scientific discoveries and translation to medicine globally.”

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