The Laboratory is a referral center, for the North-East Italian territory, for molecular diagnostics of neurodevelopmental conditions.
In particular, the diagnostic activity of this unit covers: Intellectual Disability/Autism spectrum disorders, Epileptic encephalopathies of the first year of life/Early onset epilepsy, Cerebral Palsy and Infantile Movement Disorders, 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 SDB Department. Several translational research programs have been carried on and are currently ongoing , aimed 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; Tuberous Sclerosis. A Cerebral Palsy- Infantile Movement disorders targeted panel has been developed and is in the process of being implemented in clinical activity.
Major Lab Equipment:
NGS platform: Ion Torrent PGM; 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.
Currently funded Research programs:
- Development and Epilepsy – Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy (DESIRE) FP7-HEALTH-2013-INNOVATION (Alessandra Murgia, PI Padua Unit, Third party OU University of Verona )
- Development of Next Generation Sequencing tools for the diagnosis of neurodevelopmental disorders: Progetto Giovani Ricercatori Regione Veneto Ministero della Salute (GR-2011-02347754; PI Dr. EmanuelaLeonardi)
- Development of Next Generation Sequencing tools for the diagnosis of neurodevelopmental disorders . Acceleration Project funded by Istituto di Ricerca Scientific CdS (Project code 18/04; PI Dr. EmanuelaLeonardi)
- AM , RP and FC collaborate at the research project: “Neurodevelopmental disorders in a dish: the X fragile paradigm (NeuroX) ,funded by CARIPARO Ricerca Pediatrica 2016-2018, (Project code 17/05; PI Prof. Nicola Elvassore)
Prof. Alessandra Murgia (vice-representative for Padova 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
- Dr. Roberta Polli PhD (Technical Director; Responsible of Quality Control)
- Dr. Emanuela Leonardi PhD
- Dr. Elisa Bettella PhD
- Dr. Federica Cesca PhD, post-doctoral fellow
- Dr. Maria Cristina Aspromonte (Master in Biology) PhDStudent
- Dr. Maria Grazia Bellini (Master in Biology), Recipient of training grant
- Marilena Cameran Lab technician
Selected PublicationsFederica Cesca, Elisa Bettella, Roberta Polli, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia. 2018. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members. International Journal of Pediatric Otorhinolaryngology, 104:88-93.
Emanuela Leonardi, Emanuela Dazzo, Maria Cristina Aspromonte, Francesco Tabaro, Stefano Pascarelli, Silvio C.E. Tosatto, Roberto Michelucci, Alessandra Murgia, Carlo Nobile. 2017. CNTNAP2 mutations and autosomal dominant epilepsy with auditory features. Epilepsy Res, 139:51-53.
Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F.. 2014. Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res, 3(4):153-61
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.. 2014. AGG interruptions and maternal age effect on FMR1 CGG allele stability during transmission.. Journal of Neurodevelopmental Disorders, 6(1):24.
Bettella E, Di Rosa G, Polli R, Leonardi E, Tortorella G, Sartori S, Murgia A.. 2013. Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.. Clin Genet, 84(1)
Corso Stati Uniti, 4
Phone: +39 049 9640139
Fax: +39 049 9640101