Fabio Macciardi
I have been appointed Professor and head of the Laboratory of Molecular Psychiatry at UCI in 2009. Before my present position, I was Associate Professor at the University of Toronto and at the University of Milano where I was responsible for leading the Unit dedicated to the genetics of Complex Neuropsychiatric Disorders.
My current research activities are centered on the analysis of the function and evolution of genes in neurocognitive complex traits, using next-generation DNA and RNA sequencing methods together with Brain Imaging techniques (structural and functional magnetic resonance imaging, diffusion tensor imaging), integrated with a biostatistical and computational approach. The main focus of my work is to investigate how changes in DNA regulatory sequences and in RNA brain transcriptomes contribute to cognitive traits (like, language or learning) and to neuro-psychiatric diseases. In particular, my lab has identified and characterized the role of Transposable Elements (TEs: DNA elements that can move within the genome) as major epigenetic regulators (alternative promoters, enhancers, insulators) of gene expression. We have been the first lab to systematically analyze non-reference and de novo LINE1s (L1s) in psychiatric disorders, proving that the distribution of their retro-transpositions are different in healthy subjects compared to schizophrenic patients (Guffanti et al, 2016). We have developed molecular and bioinformatics tools to quantify the expression of TEs in neural tissues: we have detected more than 600,000 expressed discrete TEs in the human frontal lobe and found that their altered expressions contribute to schizophrenia and autism, through a possible dysregulation of neurodevelopmental gene pathways (Guffanti et al, MBE 2018). I am also the co-Chair of the Evolution working group in the ENIGMA consortium (Enhancing Neuro Imaging Genetics through Meta-Analysis): my lab is also involved in studying the joint evolution of brain structures related to high cognitive functions with the human genome, using a paleogenetic / paleoneurology strategy. We have successfully sequenced paleogenomes dating back to 20,000 years BCE and virtually rebuilt their brains using modern ad hoc imaging techniques. Such a unique combination of ancient DNA sequences and virtual cortical brain reconstruction is allowing us to chart the recent – Human specific – evolution of genes and RNA regulators that control for brain development and function.
Phone: (+1)9498241252
Address: Lab of Molecular Psychiatry
Dept of Psychiatry and Human Behavior
University of California, Irvine
Office: 312 Sprague Hall
839 Health Sciences Road
Irvine, CA 92697-3910, USA
My current research activities are centered on the analysis of the function and evolution of genes in neurocognitive complex traits, using next-generation DNA and RNA sequencing methods together with Brain Imaging techniques (structural and functional magnetic resonance imaging, diffusion tensor imaging), integrated with a biostatistical and computational approach. The main focus of my work is to investigate how changes in DNA regulatory sequences and in RNA brain transcriptomes contribute to cognitive traits (like, language or learning) and to neuro-psychiatric diseases. In particular, my lab has identified and characterized the role of Transposable Elements (TEs: DNA elements that can move within the genome) as major epigenetic regulators (alternative promoters, enhancers, insulators) of gene expression. We have been the first lab to systematically analyze non-reference and de novo LINE1s (L1s) in psychiatric disorders, proving that the distribution of their retro-transpositions are different in healthy subjects compared to schizophrenic patients (Guffanti et al, 2016). We have developed molecular and bioinformatics tools to quantify the expression of TEs in neural tissues: we have detected more than 600,000 expressed discrete TEs in the human frontal lobe and found that their altered expressions contribute to schizophrenia and autism, through a possible dysregulation of neurodevelopmental gene pathways (Guffanti et al, MBE 2018). I am also the co-Chair of the Evolution working group in the ENIGMA consortium (Enhancing Neuro Imaging Genetics through Meta-Analysis): my lab is also involved in studying the joint evolution of brain structures related to high cognitive functions with the human genome, using a paleogenetic / paleoneurology strategy. We have successfully sequenced paleogenomes dating back to 20,000 years BCE and virtually rebuilt their brains using modern ad hoc imaging techniques. Such a unique combination of ancient DNA sequences and virtual cortical brain reconstruction is allowing us to chart the recent – Human specific – evolution of genes and RNA regulators that control for brain development and function.
Phone: (+1)9498241252
Address: Lab of Molecular Psychiatry
Dept of Psychiatry and Human Behavior
University of California, Irvine
Office: 312 Sprague Hall
839 Health Sciences Road
Irvine, CA 92697-3910, USA
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