Bahlo Lab

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.

Detection and understanding of genetic risk factors.

The Bahlo laboratory haS developed innovative methods and software for genetic analysis that have led to major genetic discoveries, including diagnostically critical identification of new genes and genetic pathways implicated in neurological and retinal disorders.

Key discoveries include:

• discovery of new genes for ataxia and epilepsy
• discovery of the genetic drivers for MacTel, a retinal disorder
• development of pipelines for the analysis of data to improve diagnostics
• development of novel methods to identify repeat expansions, a type of genetic mutation that causes disease
• bespoke analyses of complex data sets that outline new avenues for future bench work, often working closely with clinician collaborators