Novarino Group

Genetic and Molecular Basis of Neurodevelopmental Disorders

Gaia Novarino’s research aims to study genes underlying inherited forms of neurodevelopmental disorders such as epilepsy, intellectual disability, and autism. Neurodevelopmental disorders affect millions of people and are often refractory to treatments. Her group employs many different techniques, from molecular biology to behavior, to identify common pathophysiological mechanisms underlying this group of disorders.

Neurodevelopmental disorders are caused by mutations in a plethora of genes, whose role in the brain is mostly unknown. Identifying the molecular mechanisms underlying these genetic forms of seizure, autism syndromes, and intellectual disability may retain the key to develop therapeutic strategies for this group of conditions. The Novarino group studies the function of epilepsy, intellectual disability, and autism-causing genes at the system, cellular, and molecular levels with the goal of providing a framework for the development of effective pharmacological therapies and the background for the identification of new pathological genetic variants. Their work in understanding the underlying mechanisms will moreover advance the overall understanding of the human brain.

Group Leader

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Current Projects

Molecular mechanisms underlying autism spectrum disorders | SETD5 gene in intellectual disability | Modeling epileptic encephalopathies and autism spectrum disorders in human brain organoids | Role of the autism-associated gene CHD8 in cortical development | The role of branched amino acid-dependent pathways in neurodevelopmental disorders


Éltes T, Szoboszlay M, Szigeti MK, Nusser Z. 2019. Improved spike inference accuracy by estimating the peak amplitude of unitary [Ca2+] transients in weakly GCaMP6f-expressing hippocampal pyramidal cells. Journal of Physiology. View

Traxl A, Mairinger S, Filip T, Sauberer M, Stanek J, Poschner S, Jäger W, Zoufal V, Novarino G, Tournier N, Bauer M, Wanek T, Langer O. 2019. Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib. Molecular Pharmaceutics. 16(3), 1282–1293. View

Marsh A, Novarino G, Lockhart P, Leventer R. 2019. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 27, 161–166. View

Deliu E, Arecco N, Morandell J, Dotter C, Contreras X, Girardot C, Käsper E, Kozlova A, Kishi K, Chiaradia I, Noh K, Novarino G. 2018. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. 21(12), 1717–1727. View

Tarlungeanu D-C, Novarino G. 2018. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 50(8). View

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since 2014 Assistant Professor, IST Austria
2010 – 2013 Postdoc, UCSD (Joseph Gleeson Lab), La Jolla, USA
2006 – 2010 Postdoc, Center for Molecular Neurobiology, Hamburg, Germany and MDC/FMP (Thomas Jentsch Lab) Berlin, Germany
2006 PhD, University “La Sapienza“, Rome, Italy

Selected Distinctions

2017 Knight Grand Cross, Order of Merit of the Italian Republic
2016 Simons Foundation Autism Research Initiative (SFARI) Investigator
2016 ERC Starting Grant
2016 FENS-Kavli Scholar
2015 Boehringer Ingelheim FENS Research Award 2016
2014 Citizens United for Research in Epilepsy (CURE) Taking Flight Award
2012 Citizens United for Research in Epilepsy (CURE) Young Investigator Travel Award
2011 DFG 2-year Fellowship

Additional Information

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