_Ciclo de Seminarios_

***Neurodevelopmental disorders: from molecular mechanisms to novel treatments** *

*Dra. Gaia Novarino*

*Viernes 8 de junio, 14 hs*

*La charla se realizará por videoconferencia, en inglés*

*Auditorio Leloir*

*INIBIBB*

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*Dra. Gaia Novarino (*Assistant Professor, Institute of Science and Technology, Klostemeuburg, Austria Vice Chair of FENS-Kavli network of excellence scholar).

_Premios recibidos:_

- ERC Starting Award. 2016

- Simons Foundation Autism Research Initiative Investigator Award. 2016

- Boehringer Ingelheim FENS Research Award. 2016

- CURE (Citizens United for Research in Epilepsy) Taking Flight Award. 2014

Publicaciones (2014-2018)

1. Deliu E, Arecco N, Morandell J, Dotter CP, Contreras X, Girardot C, Kaesper E, Kozlova A, Kishi K, Chiaradia I, Noh K, Novarino G*. Haploinsufficiency of intellectual disability-gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience (under evaluation)

2. Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG*. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet. 2018 Jan;55(1):48-54

3. Tarlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch C, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan AO, Gunel M, Gleeson JG, Novarino G*. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorders. Cell 2016 Dec 1; 67(6):1481-1494.

4. Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM#, Novarino G#, Engels H#*. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015 Jun; 23(6):753-60.

5. Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG*. Offtarget effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron 2014 June, 18; 82(6):1255-62

6. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG*. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014 Jan 31;343(6170):506-11.