• Professor of Functional Genomics at the Center for Genetics and Genomics Versus Arthritis

I completed my Bachelors of Biochemistry at the University of Granada in Spain. I developed a strong interest in research during my final two years, when I undertook a laboratory-based research project at the Department of Biochemistry and Molecular Biology after being awarded an Introduction to Research scholarship.

I joined Professor Javier Martin’s group at the López Neyra Parasitology and Biomedicine Institute in Granada in 2002. The focus of my work was the study of the genetic susceptibility to rheumatoid arthritis (RA), but I also collaborated in the study of other autoimmune diseases, such as systemic lupus erythematosus, ankylosing spondylitis, celiac disease and inflammatory bowel disease. My work was funded by PhD studentships from the Spanish Research Council and Ministry of Science. I obtained my PhD in 2007 with the highest honours, summa cum laude.

I joined the Arthritis Research UK Epidemiology Unit in 2008 as a research associate. Shortly after, I was awarded a Marie Curie Intra-European Fellowship, under the supervision of Professors Jane Worthington and Anne Barton. My project was focused on the study of the RA associated region 6q23, through fine mapping, bioinformatics and functional studies.

In 2011, I was awarded a Wellcome Trust Research Career Development Fellowship to build and expand on this experience in functional genomics and explore further how genetic variation affects gene function and, in turn, how this relates to the molecular mechanism of disease.

Large-scale genetic association studies have been extremely successful in identifying a large number of genetic variants (single nucleotide polymorphisms or SNPs) that predispose to complex human traits. One of the biggest challenges in human genomics now is to interpret the functional consequences of these variants. The majority of genetic associations to date are with markers that are intergenic and potentially may affect gene regulation.

My main research interests centre on the identification of causal variants and genes within regions associated with complex traits, using a combination of genetic analysis, bioinformatic tools and functional experiments to investigate how the variants affect gene expression and function and, ultimately, how that affects disease pathways.

American Society of Human Genetics

Associate Editor, BMC Medical Genetics

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BSc Biochemistry 2002

PhD 2007

James Ding - Postdoctoral Researcher

Priya Gaddi - Postdoctoral Researcher

Chenfu Shi - PhD student

Nadia Iqbal - Research Technician

Catherine Smedley - Research Technician