Dr Xena Giada Pappalardo

PhD student

Education: M.S. in Cellular and Molecular Biology at University of Catania (a.y. 2012/2013), gets a post graduate internship at the functional genomics centre of the Institute of Neurological Sciences (ISN), National Council of Research (CNR), unit of Catania. In 2014, she wins a training grant for the professional profile as biotech technician (call CLUSTER ALISEI PON 2007-2013), through which she improves her skills in the field of recombinant DNA, epigenetic analysis and microarray technology, as well as learning a systemic approach based on the use of main bioinformatic tools and biological databases for the functional analysis of large-scale genomic data.
From 2016 to 2017 she is involved in a multidisciplinary project entitled “Maltreatment and Child Abuse: clinical, genetic and epigenetic correlations” (call ISN-BS04/2016 CT) focused on genetic and epigenetic effects of early life stress. In 2018 she receives an 18-month-traineeship grant in industrial research (call for Spin-off project- P.O. FSE 2014/2020 entitled “Development and application of biosensoristic technologies in genomics") at Institute for Research and Biomedical Innovation IRIB of National Research Council, unit of Catania.
In 2019 she starts her Ph.D. in Biotechnologies (XXXIV cycle), with no funding, at Department of Biomedical and Biotechnological Sciences (BIOMETEC), of University of Catania. In 2019, thanks to PhD program, she carries out a 6-month- research period abroad at the Dept. of Biochemistry of the University of Cambridge and the Cambridge Systems Biology Centre (CSBC) under the supervising of her academic tutor, Prof. Giuseppe Nicosia and host tutor, Prof. Steve Oliver. During this period, she studies the use of mathematical models for the selection of metabolic mutants and the application of the “reverse-engineering” technique based on transcriptomic data to infer gene regulatory networks.
Currently, in addition to carry out the main activity of her PhD thesis, she is actively involved in several projects correlated with the Child Maltreatment for which Dr. Enrico Parano (IRIB-CNR) is the principal investigator.
The main skills gained are: molecular biology, bioinformatics, biosensors, systems biology and neuroepigenetics. Her scientific production is prevalently on the research activity in the clinical pediatric neurology.

International Identifiers:

Scopus ID: 57190576942
Orcid ID: 0000-0002-4640-6677
Google Scholar ID: yIgAg3kAAAAJ

Google Scholar H-Index 2
Scopus H-Index 2

1) Guarino, Francesca; Zinghirino, Federica; Mela, Lia; Pappalardo, Xena Giada; Ichas, François; De Pinto, Vito; Messina, Angela; NRF-1 and HIF-1α contribute to modulation of human VDAC1 gene promoter during starvation and hypoxia in HeLa cells” Biochimica et Biophysica Acta (BBA)-Bioenergetics,1861,12,148289,2020, Elsevier.
2) Guarino, Francesca; Zinghirino, Federica; Mela, Lia; Pappalardo, Xena Giada; Messina, Angela; De Pinto, Vito; “NRF-1 and HIF-1α modulate activity of human VDAC1 gene promoter during starvation and hypoxia in HeLa cells”, Biochim Biophys Acta Bioenerg 2020 Dec 1;1861(12):148289.
3) Pavone, Piero; Ruggieri, Martino; Marino, Simona D; Corsello, Giovanni; Pappalardo, Xena; Polizzi, Agata; Parano, Enrico; Romano, Catia; Marino, Silvia; Praticò, Andrea Domenico; “Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy” Molecular Genetics & Genomic Medicine,8,4,e1109,2020.
4) Pavone, Piero; Pappalardo, Xena Giada; Praticò, Andrea Domenico; Polizzi, Agata; Ruggieri, Martino; Piccione, Maria; Corsello, Giovanni; Falsaperla, Raffaele; “Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis” Journal of Pediatric Genetics,9,03,177-182,2020, Georg Thieme Verlag KG.
5) Pavone, Piero; Pappalardo, Xena Giada; Incorpora, Gemma; Falsaperla, Raffaele; Marino, Simona Domenica; Corsello, Giovanni; Parano, Enrico; Ruggieri, Martino; “Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2”, European journal of Medical Genetics,63,8,103957, 2020, Elsevier Masson.
6) Falsaperla, Raffaele; Pappalardo, Xena Giada; Romano, Catia; Marino, Simona Domenica; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Pavone, Piero,"Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures" Frontiers in Pediatrics,8, 2020, Frontiers Media SA.
7) Zinghirino, Federica; Pappalardo, Xena Giada; Messina, Angela; Guarino, Francesca; De Pinto, Vito; "Is the secret of VDAC Isoforms in their gene regulation? Characterization of human VDAC genes expression profile, promoter activity, and transcriptional regulators", International Journal of Molecular Sciences,21,19,7388, 2020, Multidisciplinary Digital Publishing Institute.
8) Pavone, Piero; Pappalardo, Xena Giada; Marino, Simona D; Sciuto, Laura; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Piccione, Maria; Falsaperla, Raffaele; “A novel GABRB3 variant in Dravet syndrome: Case report and literature review” Molecular Genetics & Genomic Medicine,8,11,e1461, 2020.
9) Pavone, Piero; Pappalardo, Xena Giada; Ohazuruike, Ugochi Ngaobiri Nelly; Striano, Pasquale; Parisi, Pasquale; Corsello, Giovanni; Marino, Simona Domenica; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele; "Chromosome 15q BP4–BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment",Journal of Epilepsy Research,10,2,84, 2020,Korean Epilepsy Society.
10) Parano, Enrico; Pappalardo, Xena Giada; Pavone, Piero; Ruggieri, Martino; Cavallaro, Sebastiano; “Child Abuse Syndrome (CAS): a newly recognized distinct entity” The Open Neurology Journal,10,1,2016.

Main PhD project in Biotechnologies:

“Inferring Gene Regulatory Networks in Amyotrophic Lateral Sclerosis” in cooperation with Department of Biomedical and Biotechnological Sciences of University of Catania, University of Cambridge and IRIB-CNR unit of Catania.

Secondary PhD projects:

- “Genomic and Epigenomic Regulation of Voltage-Dependent Anion Channel (VDAC) genes” and “Redesigning of metabolic engineering microorganisms”.
- Maltreatment and Child Abuse: clinical, genetic and epigenetic correlations (DSB.AD005.011).
- Clinical, genetic, epigenetic and metabolic correlates of child neurological pathologies (DSB.AD005.011.003).