NHMRC Early Career Fellowship (CJ Martin - Overseas Biomedical Fellowship): Using new genomic technologies, statistical and computational methods to uncover the genetic aetiology of complex traits (2013–2017)
Understanding the genetic aetiology of complex disorders such as Type 1 Diabetes, cancer and schizophrenia offers hope of developing new therapies and preventative measures that will reduce the burden of disease in Australia. Much of the heritability remains unexplained. New genomic technologies are beginning to offer further insights into the genetics of complex traits. The aim of my proposal is to utilise the biostatistical skills that I have learned over my research career and to develop new skills in bioinformatics in order to integrate, visualise, and analyse data from new genomic technologies such as next-generation sequencing, methylation arrays and gene expression arrays.
New insights in genomics will require cutting edge technology applied to large disease cohorts. For this reason, I will spend the first two years of my fellowship at the Center for Applied Genomics at the Children's Hospital of Philadelphia. The CAG is a state-of-the-art genomics facility lead by Dr. Hakon Hakonarson. I will develop new statistical methodology for analysing genomic data, and apply these and existing methods to the large cohorts at CHOP. My primary interest is in the genetic underpinnings of psychiatric disorders, and I will apply these methods to the schizophrenia, autism and ADHD datasets at CHOP.
Upon my return to Australia, I will use the knowledge and skills learned at CAG and apply them to several large cohorts in Brisbane, at both the Queensland Brain Institute and the Queensland Institute for Medical Research. Both institutes have collected large cohorts for psychiatric disorders. Psychiatric disorders are among the most frequent and most debilitating disorders in Australia. Insights gleaned from large genomic studies have the potential to substantially decrease the burden of disease
The ultimate aim of my research is to understand the biological pathways disrupted in disease, and to identify those most at-risk in the population, prior to disease onset.