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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Team

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Bernadette Basilico

Postdoc

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Barbara de Sousa Oliveira

Postdoc

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Christoph Dotter

PhD Student


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Farnaz Freeman

Project Technician

+43 2243 9000 2139

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Luis Garcia Rabaneda

Postdoc

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Denise Haslinger

Postdoc


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Lisa Knaus

PhD Student

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Magdalena Ladrón de Guevara

Project Technician

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Jasmin Morandell

PhD Student


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Hagar Moussa

Postdoc

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Lena Schwarz

PhD Student

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Margit Szigeti

Postdoc


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Aysan Yahya

Project Technician


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


Publications

Basilico B, Morandell J, Novarino G. 2020. Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics and Development. 65(12), 126–137. View

Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. View

Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7). View

Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, Ludwig CF, Novarino G, López-Cayuqueo KI, Planells-Cases R, Jentsch TJ. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal. View

Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J. 2020. Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences. 21(3). View

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Career

since 2019 Professor, IST Austria
2014 – 2019 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

Download CV
Open Novarino group website



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