Genomics Section

Dr Alan Pittman has a strong background in computational genetics and is one of the founding members of the virtual bioinformatics unit, which aims to support and promote the use of bioinformatics across the university. His research interests cover a wide range of human genomics, including the application of next-generation sequencing approaches to rare and common diseases, such as neurological disorders and lipoedema.

At City St George’s, we have developed an internationally recognised centre for lymphovascular research, led by Professor Pia Ostergaard, Dr Silvia Martin-Almedina, Professor Sahar Mansour and Professor Kristiana Gordon. Primary Lymphoedema is a rare condition that is clinically and genetically heterogeneous, characterised by swelling of the limbs or other parts of the body. Prof Ostergaard’s group has successfully identified numerous causal genes, highlighting phenotypic sub-classifications of Primary Lymphoedema to improve diagnosis and clinical management of this debilitating condition. Dr Silvia Martin-Almedina’s group looks at functionally validating the genetic findings using various in vitro cell models, to understand the molecular mechanisms of disease. The team is working on different ways of deep phenotyping lymphoedema patients and draws on colleagues’ expertise in imaging (Professor Franklyn Howe and Dr Lakshmi Ratnam) and immune profiling (Professor Derek Macallan).

As a rare disease geneticist, Dr Laura Southgate specialises in the detection of risk genes for inherited vascular disorders. Through genome-wide analyses of DNA sequence variation, she has successfully identified causal genes for pulmonary arterial hypertension, Adams-Oliver syndrome and other rare diseases, highlighting several pathways important for human vascular development.

We also work closely with colleagues in the Experimental Cardiology section (Dr Marta Futema and Dr Roddy Walsh), conducting research into genetic risk factors for inherited heart diseases such as familial hypercholesterolemia (FH) and cardiomyopathies.

Dr Chris Carroll seeks to understand the genetic causes of rare inherited neurological and metabolic diseases, with a focus on mitochondrial disorders. His investigations into the molecular mechanisms of inherited mitochondrial disorders have led to the identification and functional characterisation of genetic variation within the oxidative phosphorylation cascade and tricarboxylic acid (TCA) cycle.

Our neurogenetics research has a strong emphasis on identifying the genetic causes of neurodevelopmental disorders. Using whole-exome sequencing, Dr Kate Everett and Dr Chris Carroll each focus on applying analytical approaches to track down disease-causing variants. Their research further supports undergraduate and postgraduate education in Genomic Medicine.

Some of the most important members of our research section are our zebrafish! Using these versatile vertebrates, we can model human genetic disorders and examine the impact of identified variation on embryonic development. Work led by Dr Dan Osborn focuses on disorders affecting the cilium, muscle, kidney and brain, whilst Dr Florencia Cavodeassi specialises in disorders of eye development.

We additionally use in vitro and gene editing approaches to assess protein function and dysregulation in genetic disease. Dr Silvia Martin-Almedina applies molecular biology techniques in cell culture models to examine genes important in Primary Lymphoedema. Using a range of proteomic approaches, research in Dr Southgate's group focuses on understanding the roles of Notch, Rho GTPase, BMP and other cellular pathways in the pathogenesis of rare vascular diseases. Similarly, Dr Carroll has developed a library of CRISPR/Cas9-mediated gene knockouts to explore the impact of mitochondrial gene dysfunction.