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Personal profile

Overview

I am a Lecturer in Genetics/Genomics at the Division of Cardiovascular Sciences since November 2015. Having come from a background in yeast genetics, I have committed my future career to the identification and study of genes linked to diseases, especially in the cardiovascular system, recognising the potential for patient benefit that may result from novel computational approaches.

Research interests

My main research interest is in understanding why some variation (either quantitative or qualitative) is tolerated whereas other variation is deleterious.

Identification and interpretation of genetic variants linked to cardiovascular diseases

The use of high-throughput methodologies and large cohorts has permitted the identification of many genes and genetic variants associated to congenital diseases. Nevertheless, we have not seen the expected breakthrough: causative genes only explain a small proportion of cases, and most identified variants are of unknown significance. Therefore, we need to develop novel bioinforamtics approaches for interrogating the vast amount of available genetic variation data.
 
Functional genomics of cardiovascular development and disease

Cardiovascular diseases encompass many diverse conditions with very dissimilar origins; e.g., congenital, environmental, or as a complication of diseases such as kidney failure or diabetes mellitus. Therefore the comprehension of the pathophysiology of diseases not only relies on the identification of the genetic causes and the influence of external factors, but also on the understanding of the molecular consequences caused by any anomaly. This highlights the necessity for approaches that permit modelling the systemic changes (from transcriptional variation to protein degradation) undergoing within the cell.

Transcriptional and translational response to stress

Yeast is a very useful model organism for studying basic global processes such as translational control and stress response. We have been collaborating extensively with the Pavitt, Grant, O'Keefe, Ashe, and Hubbard labs in the study of some of these processes.

Teaching

Co-Director of the MSc Bioinformatics and Systems Biology programme

Unit coordinator and lecturer on BIOL60791 Introduction to Bioinformatics

Lecturer on BIOL33011 MSci Bioinfromatics Tools and Resources

Lecturer on MRes Cardiovascular Health and Disease

Various roles on the MBChB programme

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Research Beacons, Institutes and Platforms

  • Digital Futures
  • Christabel Pankhurst Institute

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