Genetics and Rare Diseases Area

Molecular Genetics of Neurodevelopmental Disorders

Prof. Alessandra Murgia

Principal Investigator

Research Activity

The Laboratory of Molecular Genetics of Neurodevelopment (GNS Lab) is a leading center for the molecular diagnostics of Fragile X Disorders: Fragile X Syndrome (FXS), Fragile X-associated Neuropsychiatric Conditions (FXANC), Fragile X-associated Primary Ovarian Insufficiency (FXPOI), Fragile X-Associated Tremor Ataxia Syndrome (FXTAS).
The laboratory members have a long and well established experience in the development and validation of protocols for genomic and transcriptomic analysis in rare pediatric neurodevelopmental disorders, and work in synergy with the pediatric Neurology and Neurophysiology unit of the Department of Women’s and Children’s Health.
The Laboratory is a part of the X-Fragile Multidisciplinary Network of Padua (http://www.sdb.unipd.it/centro-x-fragile).
The main research objective is to understand the molecular mechanisms and correlation with the clinical manifestations of Fragile X Syndrome and FMR1 premutation-related diseases (FXPAC), with two main goals:
• identifying molecular biomarkers that can represent better tools for evaluating the clinical course of these disorders and possibly monitor the efficacy of new drugs;
• identifying possible new specific pathways that can be target of innovative therapies.

Team Members

Prof. Alessandra Murgia – Principal Investigator
Dr. Roberta Polli – Senior Technologist/Research Associates
Dr. Elisa Bettella – Senior Technologist/Research Associates
Dr. Marilena Cameran – Senior Technologist/Research Associates

Selected Publications

• Protic D, Polli R, Hwang YH, Mendoza G, Hagerman R, Durbin-Johnson B, Hayward BE, Usdin K, Murgia A, Tassone F. Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells. 2023 Jun 24;12(13):1711.
• Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D’Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A.Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. Eur J Hum Genet. 2023 Feb;31(2):202-215.
• Sawacha Z, Spolaor F, Piątkowska WJ, Cibin F, Ciniglio A, Guiotto A, Ricca M, Polli R, Murgia A. Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait. Sensors (Basel). 2021 Jul 12;21(14):4746
• Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny A, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M, Sadikovic B. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Epigenomics. 2023 Mar;15(6):351-367
• Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics; Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 Oct 15;10(1):4679