Gaia Novarino

Gaia Novarino

IST, Austria

Gaia Novarino


Gaia Novarino is a professor of Institute of Science and Technology, Klosterneuburg, Austria. Prof. Novarino obtained her Ph.D. in developmental biology from the La Sapienza University (Rome, Italy) in 2006. During the Ph.D studies she moved to Germany to join the Max Delbruck Center for Molecular Medicine where she focused on the study of chloride transporters associated with human genetic disorders. In 2010 she started a postdoc at the School of Medicine of University of California, San Diego researching the genetics of epilepsy, autism and intellectual disability. In 2014, prof. Novarino joined the Institute of Science and Technology Austria (ISTA), first as Assistant Professor and then as Full Professor.

Studying the genes underlying inherited forms of neurodevelopmental disorders remains the mainfocus of her research. The Novarino Group at ISTA currently investigates the role of the SETD5 gene in intellectual disability, modeling epileptic encephalopathies and autism spectrum disorders in human brain organoids as well as the role of branched aminoacid-dependent pathways in neurodevelopmental disorders. Their recent publication topics include the role of large neutral aminoacid levels in tuning perinatal neuronal excitability and survival, and the cytoskeleton protein homeostasis and cell migration during acritical window of brain development.

Prof. Gaia Novarino holds a plethora of prestigious awards and grants, including the ERC grant, the Boehringer Ingelheim FENS Research Award. She is a FENS-Kavli Network of Excellence alumni, a Simons foundation Investigator, and since 2021 the Vice Presidents for Science Education at IST Austria.

Talk: "From Molecular Codes to Behavioral Patterns: Deciphering Autism Spectrum Disorders" 

Recent advancements in the field of autism spectrum disorder (ASD) research have uncoverd an array of genes associated with the risk of developing this complex condition, shedding light on crucial biological pathways. Despite this progress, critical questions remain unanswered, particularly regarding the mechanisms through which genetic mutations translate into ASD and the reasons behind the phenotypic similarity across different genetic forms of the disorder. Addressing these questions is not only pivotal for ASD understanding but can also unravel fundamental principles of brain function and development. In this presentation, I will introduce our integrative strategy that goes from single-cell sequencing to comprehensive functional studies, aiming to dissect a diverse array of ASD models. This approach is designed to reveal both convergences and divergences across various forms of autism, providing insights into the common and unique molecular pathways that underlie this spectrum of disorders.

Selected Publications

Large neutral amino acid levels tune perinatal neuronal excitability and survival.Knaus LS, Basilico B, Malzl D, Gerykova Bujalkova M, Smogavec M, Schwarz LA, Gorkiewicz S, Amberg N, Pauler FM, Knittl-Frank C, Tassinari M, Maulide N, Rülicke T, Menche J, Hippenmeyer S, Novarino G. Cell. 2023 Apr 27;186(9):1950-1967.e25. doi: 10.1016/j.cell.2023.02.037. Epub 2023 Mar 29.

Deliu, E., Arecco, N., Morandell, J., Dotter, C. P., Contreras, X., Girardot, C., Käsper, E. L., Kozlova, A., Kishi, K., Chiaradia, I., Noh, K. M., & Novarino, G. (2018). Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature neuroscience21(12), 1717–1727.

Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., Al-Aama, J. Y., Abdel-Salam, G. M. H., Karminejad, A., Kara, M., Kara, B., Bozorgmehri, B., Ben-Omran, T., Mojahedi, F., … Gleeson, J. G. (2014). Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.)343(6170), 506–511.

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., Ercan-Sencicek, A. G., Hashish, A. F., Sanders, S. J., Gupta, A. R., Hashem, H. S., Matern, D., Gabriel, S., Sweetman, L., Rahimi, Y., Harris, R. A., … Gleeson, J. G. (2012). Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.)338(6105), 394–397.

CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. Villa CE, Cheroni C, Dotter CP, López-Tóbon A, Oliveira B, Sacco R, Yahya AÇ, Morandell J, Gabriele M, Tavakoli MR, Lyudchik J, Sommer C, Gabitto M, Danzl JG, Testa G, Novarino G.Cell Rep. 2022 Apr 5;39(1):110615. doi: 10.1016/j.celrep.2022.110615.

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