Dr Claudio Toma


Senior Research Officer Conjoint Lecturer, School of Medical Sciences, UNSW

+612 9399 1890

My scientific career has mainly focused on the genetics of complex diseases. I am interested in identifying novel genes involved in psychiatric diseases by analysing the impact of CNVs, rare variants and common variants.

I graduated in Molecular Biology (cum laude) at the University of Bologna in 2004. Subsequently, I joined Prof Anthony Monaco’s group at Wellcome Trust Centre for Human Genetics, University of Oxford, to study functional aspects of the dyslexia-associated KIA00319 gene. I obtained my PhD in 2009 at the University of Bologna in the lab of Prof Elena Maestrini, where my research focused on autism susceptibility genes within top linkage regions on chromosomes 2, 7 and X. I conducted my post-doc at University of Barcelona in the group of Prof Bru Cormand, studying the impact of rare variants using exome sequencing in multiplex autism families. During this project I identified novel candidate genes for autism. Currently, I’m part of Dr Jan Fullerton’s group at NeuRA, investigating the genetic basis of bipolar disorder.

Projects Dr Claudio Toma is currently involved with


Exome sequencing in extended families with multiple affected by bipolar disorder

In this study, we are using a combination of whole exome sequencing (WES) and linkage analyses with the aim of identifying etiologic rare variants with higher penetrance and suggest novel genes that contribute to the pathophysiology of bipolar disorder.


Exome sequencing in extended families with multiple affected by bipolar disorder