About me:

Overall I assist in the day-to-day running of a Wellcome-funded collaborative translational genomics initiative PARADIGM (Primary Annotated Resources to Advance Discovery in Genomic Medicine).

I am responsible for the management, co-ordination and delivery of the PARADIGM project, including supporting the leadership team with the recruitment of posts, budget control and monitoring of project milestones and success factors for the funder.

I lead on the monitoring of project activities and the capturing of outputs such as publications and impact, which will be regularly reported internally and externally. This includes the production of project progress reports to the funder. I am also responsible for the creation and maintenance of a dedicated project website.

About the project:

Despite progress in genome sequencing, the majority of patients affected by rare diseases remain undiagnosed. The PARADIGM initiative will tackle this problem by creating new Primary Annotated Resources to Advance Discovery In Genomic Medicine. PARADIGM is a collaboration between researchers at the Universities of Exeter, Edinburgh, Imperial, and Cambridge as well as the European Bioinformatics Institute (EMBL-EBI) and Wellcome Sanger Institute.

By combining machine learning approaches with functional genomics data and genome sequences from patients (including the Deciphering Developmental Disorders Study and Genomics England datasets), we aim to find novel genetic causes of disease.

Qualifications:

BSc Physical Geography, University of Sussex (2007)

PhD Palaeoclimatology, University of Edinburgh (2012)