Research Project
Dr
Claudio Toma
Current Appointments
Postdoctoral Fellow (Honorary)
Conjoint Lecturer, School of Medical Sciences, UNSW
Key Research Areas
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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.
Publications
2022, 03 Aug
Epigenetic signatures relating to disease-associated genotypic burden in familial risk of bipolar disorder
View full journal-article on https://doi.org/10.1038/s41398-022-02079-6
2021 Dec
Cover Image, Volume 186B, Number 8, December 2021
View full journal-article on https://doi.org/10.1002/ajmg.b.32803
2021 Dec
Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder
View full journal-article on https://doi.org/10.1002/ajmg.b.32879
2021, 14 Sep
Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder
View full other on https://doi.org/10.1101/2021.09.06.21262817
2020 Nov
Diverse phenotypic measurements of wellbeing: Heritability, temporal stability and the variance explained by polygenic scores
View full journal-article on https://doi.org/10.1111/gbb.12694
2020, 18 Sep
Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights
View full preprint on http://dx.doi.org/10.1101/2020.09.17.20187054
2020 Jun
Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses
View full journal-article on https://www.mdpi.com/2077-0383/9/6/1851
2020 Apr
Genetic Variation across Phenotypic Severity of Autism
View full journal-article on http://dx.doi.org/10.1016/j.tig.2020.01.005
2020 Mar
Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder
View full journal-article on http://dx.doi.org/10.1016/j.jad.2020.01.037
2020
De Novo Gene Variants and Familial Bipolar Disorder
View full journal-article on http://www.scopus.com/inward/record.url?eid=2-s2.0-85084393066&partnerID=MN8TOARS
Claudio's research projects and related news
Margarete Ainsworth Building
Barker Street
Randwick NSW 2031
(02) 9399 1000