Lab focus: Bioinformatics of neurological and retinal diseases

Our group develops and applies state-of-the-art methods to analyse and comprehend complex genetic datasets. These methods are used to discover the genetic causes of human disorders such as epilepsy, ataxia, dementia, motor neuron disease and Parkinson’s disease, speech disorders and retinal disorders. We are a highly collaborative laboratory, working closely with clinician researchers to reach important outcomes for families with genetic disorders.

In recent years our research has focused on brain (neurological) and retinal disorders, but we have also worked on infectious diseases such as malaria and tuberculosis (TB). Our analysis of data produced by new genomic technologies is identifying genetic causes for diseases that have previously proven intractable to analysis.

The software we develop is made freely available to others, empowering the broader research community.

Research interest

Our lab uses statistical methodology to describe and model genetic data, by identifying and making use of structure within the data. This pinpoints genomic regions that may harbor disease-causing mutations, as well as provide insight into disease pathogenesis. We implement these models through software development and bespoke data analyses, primarily in the R programming language.

We work on many disease identification projects concurrently, some of which can be readily solved with existing methods and analytic pipelines. Others may prove more challenging, potentially taking years of development and analysis before a breakthrough is achieved. We seek to identify when and where new technologies can be implemented to achieve breakthroughs in studies that have remained unsolved thus far.