Research Area: Genetica e malattie rare
The Laboratory is a referral center, for the North-East Italian territory, for molecular diagnostics of neurodevelopmental conditions.
In particular, the diagnostic activity covers Intellectual Disability/Autism spectrum disorders, Epileptic encephalopathies of the first year of life/childhood epilepsy, Cerebral Palsy and Infantile Movement Disorders and Hereditary Sensorineural Hearing Loss.
The laboratory members have a long and well established experience in the development and validation of molecular strategies and protocols for genetic analysis of rare pediatric disorders and work in close collaboration with the clinical component of the Women’s and Children’s Health Department. Several translational research programs have been carried on and are currently ongoing with the aim at studying the biological bases of neurodevelopmental genetically heterogeneous conditions in particular intellectual disability associated with autism and early onset epilepsy.
Conventional methods of molecular genetic analysis have been replaced in the laboratory by the application of Next Generation Sequencing technology, in order to develop new and more efficient diagnostic tools. The laboratory provides NGS analysis of the following customized targeted gene panels: EIEE/early epilepsy; ID/ASD ; SNHL and Tuberous Sclerosis. A Cerebral Palsy- Infantile Movement disorders targeted panel has been developed and is in the process of being implemented in clinical activity.
Areas of interest: Neurodevelopmental disorders, Intellectual Disability/Autism Spectrum Disorders, Early Onset Epilepsy; Cerebral Palsy and Infantile movement disorders, Hereditary Deafness.
Major Lab Equipment:
NGS platform: Ion Torrent PGM/S5; 20 Terabite Archive drive. Automatic sequencer ABI PRISM 3130 Genetic Analyzer; Quantitative PCR ABI PRISM 7000, Nucleic Acids automated extractor Promega Maxwell 16 IVD. GelDOC Biorad.
Prof. Alessandra Murgia (vice-representative for Padua AOP) and the laboratory staff participate in the ERN-ITHACA (European Reference Network For Rare Congenital Malformations and Intellectual Disability).
Fragile X program: the Laboratory is a nationally recognized center for Fragile X molecular testing. Prof. Alessandra Murgia, has coordinated one of three Italian centers ever involved in international pharmacological trials for Fragile X Syndrome (AFQ, Novartis).
In January 2014, the “Multidisciplinary Fragile X Padua Network” has been founded, as the first and only Italian initiative of integrated clinical activity for Fragile X Syndrome and Fragile X- Associated conditions (http://www.sdb.unipd.it/centro-x-fragile).
The Multidisciplinary Fragile X Padua Network is officially recognized as center of excellence by the Italian Fragile X Syndrome Association; it is member of the International FXTAS Consortium.
Roberta Polli Lab manager; Quality Control Manager
Emanuela Leonardi Researcher assistant
Elisa Bettella PostDoctoral Researcher
Maria Cristina Aspromonte PhD student
Marilena Cameran Lab Technician
Bettella E, Di Rosa G, Polli R, Leonardi E, Tortorella G, Sartori S, Murgia A. Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females. Clin Genet. 2013 Jul;84(1).
Yrigollen C, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. AGG interruptions and maternal age effect on FMR1 CGG allele stability during transmission. Journal of Neurodevelopmental Disorders 2014 J NeurodevDisord. 2014;6(1):24.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing. Hum Mutat. 2019 Jun 17.
Randi Hagerman, Sebastien Jacquemont, Elizabeth Berry-Kravis, Vincent Des Portes, Andrew Stanfield, Barbara Koumaras, GerdRosenkranz, Alessandra Murgia, Christian Wolf, George Apostol, and Florian von Raison. Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Scientific Reports 2018 Nov 19;8(1):16970. doi: 10.1038/s41598-018-34978-4.
H Guo , E Bettella, PC Marcogliese , R Zhao , J C Andrews , TJ Nowakowski , M A Gillentine1, K Hoekzema , T Wang, H Wu, S Jangam, C Liu, H Ni, MH Willemsen, BW van Bon, T Rinne,, SJC Stevens , T Kleefstra, HG Brunner , HG Yntema , M Long, W Zhao, Zhengmao Hu, C Colson, N Richard, CE Schwartz, C Romano, L Castiglia, M Bottitta, SU Dhar , DJ Erwin, L mrick, B Keren, A Afenjar , B Zhu, B Bai, P Stankiewicz, K Herman, University of Washington Center for Mendelian Genomics, S Mercimek-Andrews, J Juusola, AB Wilfert, R AbouJamra, B Büttner, HC Mefford, AM Muir, I EScheffer, BM Regan, S Malone, J Gecz, J Cobben, MM Weiss, Q Waisfisz, EK Bijlsma, MJ V Hoffer, CAL Ruivenkamp , S Sartori, F Xia, J A Rosenfeld,RA Bernier, MF Wangler, S Yamamoto,K Xia, APA Stegmann, HJ Bellen, A Murgia, Evan E Eichler.Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019;10(1):4679.
Corso Stati Uniti, 4 F
Phone: +39 049 9640111
Fax: +39 049 9640101
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