{"id":2488,"date":"2021-03-02T13:09:48","date_gmt":"2021-03-02T12:09:48","guid":{"rendered":"https:\/\/www.igb.cnr.it\/?page_id=2488"},"modified":"2026-05-14T11:08:05","modified_gmt":"2026-05-14T09:08:05","slug":"marcella-vacca","status":"publish","type":"page","link":"https:\/\/www.igb.cnr.it\/index.php\/marcella-vacca\/","title":{"rendered":"Marcella Vacca"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"2488\" class=\"elementor elementor-2488\" data-elementor-settings=\"{&quot;ha_cmc_init_switcher&quot;:&quot;no&quot;}\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3ced5637 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3ced5637\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-56cfe58d\" data-id=\"56cfe58d\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4afaa5a8 elementor-widget elementor-widget-bdt-member\" data-id=\"4afaa5a8\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_animation&quot;:&quot;none&quot;}\" data-widget_type=\"bdt-member.bdt-phaedra\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"bdt-member skin-phaedra bdt-transition-toggle\">\n\t\t\t\n\t\t\t\t<div class=\"bdt-member-photo-wrapper\">\n\n\t\t\t\t\t\n\t\t\t\t\t<div class=\"bdt-member-photo\">\n\t\t\t\t\t\t<div class=\"\">\n\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2021\/10\/DSC_0100.jpg\" title=\"DSC_0100\" alt=\"DSC_0100\" loading=\"lazy\" \/>\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t<\/div>\n\n\t\t\t\n\t\t\t<div class=\"bdt-member-overlay bdt-overlay-default bdt-position-cover bdt-transition-fade bdt-position-z-index\">\n\t\t\t\t<div class=\"bdt-member-desc bdt-position-center bdt-text-center\">\n\t\t\t\t\t<div class=\"bdt-member-content bdt-transition-slide-top-small\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-66 elementor-top-column elementor-element elementor-element-263275d5\" data-id=\"263275d5\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-376128f3 elementor-widget elementor-widget-heading\" data-id=\"376128f3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Marcella Vacca<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3543d32c elementor-widget elementor-widget-text-editor\" data-id=\"3543d32c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<h3><strong><span style=\"color: #006293;\">Senior Researcher<\/span><\/strong><\/h3><div><p><strong>\u00a0<img decoding=\"async\" src=\"http:\/\/www.igb.cnr.it\/wp-content\/uploads\/2021\/02\/Telefono-icona.png\" alt=\"\" width=\"17\" height=\"17\" \/> +39 081 6132 219 \u00a0\u00a0 <img decoding=\"async\" src=\"http:\/\/www.igb.cnr.it\/wp-content\/uploads\/2021\/02\/email-icona.png\" alt=\"\" width=\"19\" height=\"19\" \/> marcella.vacca@igb.cnr.it<\/strong><\/p><p><strong>Genetics, Genomics and Epigenetics of Diseases<\/strong><\/p><p><strong>Keywords: <\/strong>sex chromosomes, MeCP2, Rett Syndrome, X chromosome inactivation and reactivation, autism spectrum disorders, mouse and cellular models, bioinformatics, human genetics.<\/p><\/div>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e8c5aa8 e-grid-align-left elementor-shape-rounded elementor-grid-0 elementor-widget elementor-widget-social-icons\" data-id=\"e8c5aa8\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"social-icons.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-social-icons-wrapper elementor-grid\" role=\"list\">\n\t\t\t\t\t\t\t<span class=\"elementor-grid-item\" role=\"listitem\">\n\t\t\t\t\t<a class=\"elementor-icon elementor-social-icon elementor-social-icon-twitter elementor-animation-grow-rotate elementor-repeater-item-6344322\" href=\"https:\/\/twitter.com\/marcella_vacca\" target=\"_blank\">\n\t\t\t\t\t\t<span class=\"elementor-screen-only\">Twitter<\/span>\n\t\t\t\t\t\t<i aria-hidden=\"true\" class=\"fab fa-twitter\"><\/i>\t\t\t\t\t<\/a>\n\t\t\t\t<\/span>\n\t\t\t\t\t\t\t<span class=\"elementor-grid-item\" role=\"listitem\">\n\t\t\t\t\t<a class=\"elementor-icon elementor-social-icon elementor-social-icon- elementor-animation-grow-rotate elementor-repeater-item-aa188af\" href=\"https:\/\/scholar.google.com\/citations?user=6hGo6lsAAAAJ&#038;hl=it\" target=\"_blank\">\n\t\t\t\t\t\t<span class=\"elementor-screen-only\"><\/span>\n\t\t\t\t\t\t<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" fill=\"#000000\" viewBox=\"0 0 50 50\" width=\"100px\" height=\"100px\"><path d=\"M 25 2 C 12.309534 2 2 12.309534 2 25 C 2 37.690466 12.309534 48 25 48 C 37.690466 48 48 37.690466 48 25 C 48 12.309534 37.690466 2 25 2 z M 25 4 C 36.609534 4 46 13.390466 46 25 C 46 36.609534 36.609534 46 25 46 C 13.390466 46 4 36.609534 4 25 C 4 13.390466 13.390466 4 25 4 z M 21 11 L 11 20 L 17.78125 20 C 17.80125 22.847 19.967531 25.730469 23.769531 25.730469 C 24.129531 25.730469 24.529688 25.690391 24.929688 25.650391 C 24.749688 26.100391 24.560547 26.470078 24.560547 27.080078 C 24.560547 28.230078 25.140391 28.920078 25.650391 29.580078 C 24.020391 29.690078 20.989766 29.879531 18.759766 31.269531 C 16.629766 32.559531 15.980469 34.43 15.980469 35.75 C 15.980469 38.47 18.500469 41 23.730469 41 C 29.930469 41 33.220703 37.510547 33.220703 34.060547 C 33.220703 31.530547 31.779453 30.279922 30.189453 28.919922 L 28.900391 27.890625 C 28.500391 27.570625 27.949219 27.120312 27.949219 26.320312 C 27.949219 25.510313 28.500703 24.989766 28.970703 24.509766 C 30.480703 23.309766 32 21.960234 32 19.240234 C 32 18.197234 31.756203 17.348391 31.408203 16.650391 L 35 13.570312 L 35 17.277344 C 34.405 17.623344 34 18.261 34 19 L 34 25 C 34 26.104 34.896 27 36 27 C 37.104 27 38 26.104 38 25 L 38 19 C 38 18.262 37.595 17.624344 37 17.277344 L 37 12 C 37 11.957 36.980609 11.920906 36.974609 11.878906 L 38 11 L 21 11 z M 24.269531 14.240234 C 27.269531 14.240234 28.820312 18.35 28.820312 21 C 28.820312 21.65 28.739922 22.819922 27.919922 23.669922 C 27.339922 24.259922 26.370938 24.699219 25.460938 24.699219 C 22.370938 24.699219 20.949219 20.620156 20.949219 18.160156 C 20.949219 17.210156 21.14 16.220938 21.75 15.460938 C 22.33 14.710938 23.339531 14.240234 24.269531 14.240234 z M 26.039062 30.609375 C 26.409063 30.609375 26.590859 30.610391 26.880859 30.650391 C 29.620859 32.630391 30.800781 33.620234 30.800781 35.490234 C 30.800781 37.760234 28.97 39.460938 25.5 39.460938 C 21.64 39.460938 19.160156 37.590469 19.160156 34.980469 C 19.160156 32.370469 21.459766 31.499219 22.259766 31.199219 C 23.769766 30.679219 25.719062 30.609375 26.039062 30.609375 z\"><\/path><\/svg>\t\t\t\t\t<\/a>\n\t\t\t\t<\/span>\n\t\t\t\t\t\t\t<span class=\"elementor-grid-item\" role=\"listitem\">\n\t\t\t\t\t<a class=\"elementor-icon elementor-social-icon elementor-social-icon-orcid elementor-animation-grow-rotate elementor-repeater-item-97b39c3\" href=\"https:\/\/orcid.org\/my-orcid?orcid=0000-0002-5495-9183\" target=\"_blank\">\n\t\t\t\t\t\t<span class=\"elementor-screen-only\">Orcid<\/span>\n\t\t\t\t\t\t<i aria-hidden=\"true\" class=\"fab fa-orcid\"><\/i>\t\t\t\t\t<\/a>\n\t\t\t\t<\/span>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-76c47cf1 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"76c47cf1\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-222c44c5\" data-id=\"222c44c5\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-2a130799 elementor-widget elementor-widget-eael-adv-tabs\" data-id=\"2a130799\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"eael-adv-tabs.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t        <div data-scroll-on-click=\"no\" data-scroll-speed=\"300\" id=\"eael-advance-tabs-2a130799\" class=\"eael-advance-tabs eael-tabs-horizontal eael-tab-auto-active \" data-tabid=\"2a130799\">\n            <div class=\"eael-tabs-nav\">\n                <ul class=\"\" role=\"tablist\">\n                                            <li id=\"research-interest\" class=\"inactive eael-tab-item-trigger eael-tab-nav-item\" aria-selected=\"true\" data-tab=\"1\" role=\"tab\" tabindex=\"0\" aria-controls=\"research-interest-tab\" aria-expanded=\"false\">\n                            \n                            \n                            \n                                                            <span class=\"eael-tab-title title-after-icon\" >Research Interest<\/span>                                                    <\/li>\n                                            <li id=\"selected-publications\" class=\"inactive eael-tab-item-trigger eael-tab-nav-item\" aria-selected=\"false\" data-tab=\"2\" role=\"tab\" tabindex=\"-1\" aria-controls=\"selected-publications-tab\" aria-expanded=\"false\">\n                            \n                            \n                            \n                                                            <span class=\"eael-tab-title title-after-icon\" >Selected Publications<\/span>                                                    <\/li>\n                                            <li id=\"professional-experience\" class=\"inactive eael-tab-item-trigger eael-tab-nav-item\" aria-selected=\"false\" data-tab=\"3\" role=\"tab\" tabindex=\"-1\" aria-controls=\"professional-experience-tab\" aria-expanded=\"false\">\n                            \n                            \n                            \n                                                            <span class=\"eael-tab-title title-after-icon\" >Professional Experience<\/span>                                                    <\/li>\n                                            <li id=\"research-group\" class=\"inactive eael-tab-item-trigger eael-tab-nav-item\" aria-selected=\"false\" data-tab=\"4\" role=\"tab\" tabindex=\"-1\" aria-controls=\"research-group-tab\" aria-expanded=\"false\">\n                            \n                            \n                            \n                                                            <span class=\"eael-tab-title title-after-icon\" >Research Group<\/span>                                                    <\/li>\n                                    <\/ul>\n            <\/div>\n            \n            <div class=\"eael-tabs-content\">\n\t\t        \n                    <div id=\"research-interest-tab\" class=\"clearfix eael-tab-content-item inactive\" data-title-link=\"research-interest-tab\">\n\t\t\t\t        <p><strong>EVOLUTION, EPIGENETICS AND POST-TRANSCRIPTIONAL REGULATION OF human XYqPAR-genes<\/strong><\/p><p>Since the beginning of my carrier, I have been fascinated by the biology of mammalian <strong>sex chromosomes<\/strong>-linked genes for their peculiar evolution, together with the epigenetic mechanisms that regulate their expression, both in physiology and pathology. Following this path, I collaborated to the characterization of two human XY-homology regions; I also contributed to study allelic-expression profile of X-linked and imprinted genes in specific human pathologies, characterized by epigenetic impairments, such as <em>ICF syndrome<\/em>, <em><strong>Rett syndrome<\/strong><\/em> (RTT) and <em>hyper-homocysteinemia<\/em>.<\/p><p><strong>MECP2, RETT SYNDROME and X CHROMOSOME INACTIVATION<\/strong><\/p><ul><li>As soon as I met some patients with RTT, the X-linked gene <strong>MECP2<\/strong> completely captured me. RTT is a severe and rare neurodevelopmental disorder, belonging to the sphere of autistic disorders. It is mainly caused by heterozygous mutations in the MECP2 gene that encodes an epigenetic regulator. Patients with RTT still waits for a cure. In the field of <strong>human genetics<\/strong>, I described the first molecular diagnosis of MECP2 in Italian and UK patients with RTT. We were the first group to look for additional genetic factor that could be involved in the pathogenesis of RTT.<\/li><li>In the last few years, by using a combination of genetic, molecular, cellular and <strong>bioinformatics<\/strong> approaches, we investigated mechanisms deregulated in a mouse model of the human disease, focusing on a developmental window taking place long time before RTT symptoms onset. An ongoing project aims to select compounds effective in rescuing the precocious morphological and molecular RTT phenotypes we found in embryonic primary cortical neurons from Mecp2 null mice.<\/li><li>Moreover, my team is currently addressing Mecp2 as a direct target for therapy of RTT. Indeed, because of <strong>X chromosome inactivation<\/strong> process (XCI), one allele of the gene is randomly silenced in somatic female cells and could be used as a functional backup to rescue the disease when <strong>reactivated<\/strong>. In order to counteract the epigenetic features of the Mecp2 silent copy, a reporter cell-based automated screening of small molecules has been developed in the lab in collaboration with dr. Laura Casalino. To this aim, a new Mecp2<strong> transgenic reporter line<\/strong> has been generated with the support of IGB mouse modeling facility. In parallel, we are tracing Mecp2 inactivation profiles during mouse development, as the XCI might contribute to clinical variability of RTT symptoms.<\/li><\/ul><p><strong>ESSENTIAL GENES&amp;EPIGENOMES<br \/><\/strong><\/p><ul><li>With the support of the Ministry of University and Research (MUR) in recent years,\u00a0 I have been dedicated to the following three research lines, in collaboration with dr. V. Colonna:<\/li><\/ul><p><strong>1.CABERNET: <\/strong>By using Single-cell DNA sequencing we aim to determine the extent of chromosome mosaicism between embryonic and extraembryonic tissues.\u00a0<\/p><p><strong>2-3.DELIVER \/ NEONATE: <\/strong>We aim to discover the genetic factors that cause reproductive failure and recurring miscarriage. To identify causative variants, we will combine single cell strand sequencing and whole genome sequencing on euploid miscarried embryos.<\/p><p style=\"text-align: center\"><strong>GUEST EDITOR<\/strong><\/p><p><a href=\"https:\/\/www.igb.cnr.it\/banner-1\/\" rel=\"attachment wp-att-17410\"><img fetchpriority=\"high\" decoding=\"async\" class=\"size-full wp-image-17410 aligncenter\" src=\"https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2024\/07\/banner-1.png\" alt=\"\" width=\"800\" height=\"458\" srcset=\"https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2024\/07\/banner-1.png 800w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2024\/07\/banner-1-300x172.png 300w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2024\/07\/banner-1-768x440.png 768w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/><\/a><strong>\u00a0<\/strong><\/p>                    <\/div>\n\t\t        \n                    <div id=\"selected-publications-tab\" class=\"clearfix eael-tab-content-item inactive\" data-title-link=\"selected-publications-tab\">\n\t\t\t\t        <ol><li>Martina Mietto, Silvia Montanari, Maria Sofia Falzarano, Elisa Manzati, Paola Rimessi, Marina Fabris, Rita Selvatici, Francesca Gualandi, Marcella Neri, Fernanda Fortunato, Miryam Rosa Stella Foti, Stefania Bigoni, Marco Gessi, <strong>Marcella Vacca<\/strong>, Silvia Torelli, Joussef Hayek and Alessandra Ferlini. <em>MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping<\/em>. Biomolecules (2025) https:\/\/doi.org\/10.3390\/biom15050687<\/li><li>Matteo Gasparotto, Elena Dall&#8217;Ara, <strong>Marcella Vacca*<\/strong> and Francesco Filippini. <em><em>VAMP7j: A Splice Variant of Human VAMP7 That Modulates Neurite Outgrowth by Regulating L1CAM Transport to the Plasma Membrane. <\/em><\/em>IJMS (2023) Online ISSN: 1422-0067<em><em><br \/><\/em><\/em><\/li><li>Irene Righetto, Matteo Gasparotto, Laura Casalino, <strong>Marcella Vacca*<\/strong> and Francesco Filippini. <em>Exogenous Players in Mitochondria-Related CNS Disorders: Viral Pathogens and Unbalanced Microbiota in the Gut-Brain Axis. <\/em>Biomolecules (2023) 13, no. 1: 169. https:\/\/doi.org\/10.3390\/biom13010169<\/li><li>Matteo Gasparotto,Yi-Shin Lee, Alessandra Palazzi, <strong>Marcella Vacca*<\/strong> and Francesco Filippini. <em>Nuclear and Cytoplasmatic Players in Mitochondria-Related <\/em><em>CNS Disorders: Chromatin Modifications and <\/em><em>Subcellular Trafficking. <\/em>Biomolecules (2022), 12, 625. https:\/\/doi.org\/10.3390\/biom12050625<\/li><li>Della Ragione F, <strong>Vacca M<\/strong>, Fioriniello S, Pepe G, D&#8217;Esposito M. <em>MECP2, a multi-talented modulator of chromatin architecture. <\/em>Briefings in functional genomics (2016) 15(6):420-431. ISSN: 2041-264<\/li><li><strong>Vacca M*<\/strong>, Della Ragione F, Scalabr\u00ec F, D&#8217;Esposito M. <em>X inactivation and reactivation in X-linked diseases.<\/em> Seminars in cell &amp; developmental biology (2016) 56:78-87. ISSN: 1084-9521<\/li><li><strong>Vacca M<\/strong>, Tripathi KP, Speranza L, Aiese Cigliano R, Scalabr\u00ec F, Marracino F, Madonna M, Sanseverino W, Perrone-Capano C, Guarracino MR, D&#8217;Esposito M. <em>Effects of Mecp2 loss of function in embryonic cortical neurons: a bioinformatics strategy to sort out non-neuronal cells variability from transcriptome profiling.<\/em> BMC bioinformatics (2016) 17 Suppl 2:14. ISSN: 1471-2105<\/li><li>Kumar Parijat Tripathi, Maurizio D&#8217;Esposito, Mario R Guarracino, <strong>Marcella Vacca*.<\/strong> <em>Deep Insights Into Mecp2-Driven Transcriptional (De)Regulation At Embryonic Developmental Stage Through RNA-Seq Data Analysis.<\/em> EMBNET JOURNAL (2015) vol. 21, ISSN: 2226-6089<\/li><li><strong>Vacca M<\/strong>, Albania L, Della Ragione F, Carpi A, Rossi V, Strazzullo M, De Franceschi N, Rossetto O, Filippini F, D&#8217;Esposito M. <em>Alternative splicing of the human gene SYBL1 modulates protein domain architecture of Longin VAMP7\/TI-VAMP, showing both non-SNARE and synaptobrevin-like isoforms.<\/em> BMC molecular biology. (2011) 12:26. ISSN: 1471-2199<\/li><li>Matarazzo MR, De Bonis ML, <strong>Vacca M<\/strong>, Della Ragione F, D&#8217;Esposito M. <em>Lessons from two human chromatin diseases, ICF syndrome and Rett syndrome.<\/em> The international journal of biochemistry &amp; cell biology (2009) 41(1):117-26. ISSN: 1357-2725<\/li><li>Martinez-Arca S, Rudge R,<strong> Vacca M<\/strong>, Raposo G, Camonis J, Proux-Gillardeaux V, Daviet L, Formstecher E, Hamburger A, Filippini F, D&#8217;Esposito M, Galli T. <em>A dual \u00a0mechanism controlling the localization and function of exocytic v-SNAREs.<\/em> Proceedings of the National Academy of Sciences of the United States of America. (2003) 100(15):9011-6. ISSN: 0027-8424<\/li><li>Rossi V, Banfield DK, <strong>Vacca M<\/strong>, Dietrich LE, Ungermann C, D&#8217;Esposito M, Galli T, Filippini F. <em>Longins and their longin domains: regulated SNAREs and multifunctional SNARE regulators.<\/em> Trends in biochemical sciences (2004) 29(12):682-8. ISSN: 0968-0004<\/li><li>Ingrosso D, Cimmino A, Perna AF, Masella L, De Santo NG, De Bonis ML, <strong>Vacca M<\/strong>, D&#8217;Esposito M, D&#8217;Urso M, Galletti P, Zappia V. <em>Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia.<\/em> Lancet (London, England 2003) 361(9370):1693-9. ISSN: 0140-6736<\/li><li>Nicolao P, Carella M, Giometto B, Tavolato B, Cattin R, Giovannucci-Uzielli ML, <strong>Vacca M<\/strong>, Della Regione F, Piva S, Bortoluzzi S, Gasparini P. <em>DHPLC analysis of the MECP2 gene in Italian Rett patients.<\/em> Human mutation. (2001) 18(2):132-40. ISSN: 1059-7794<\/li><li><strong>Vacca M<\/strong>, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D&#8217;Urso M, D&#8217;Esposito M, MacDonald F, Kerr A, Dhanjal S, Hult\u00e9n M. <em>Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.<\/em> Journal of molecular medicine (Berlin, Germany 2001) 78(11):648-55. ISSN: 0946-2716<\/li><\/ol><p><em>\u00a0*corresponding author<br \/><\/em><\/p>                    <\/div>\n\t\t        \n                    <div id=\"professional-experience-tab\" class=\"clearfix eael-tab-content-item inactive\" data-title-link=\"professional-experience-tab\">\n\t\t\t\t        <p><strong>EDUCATION<\/strong><\/p><ul><li><strong>2003:<\/strong> \u00a0\u00a0 PhD in Neurosciences (Audioverbal communication physiology) at the Faculty of Medicine of the University of Naples- Federico II-, defending the thesis \u201c<em>Molecular and Physiological analysis of Rett Syndrome<\/em>\u201d (tutor, prof. Elio Marciano).<\/li><li><strong>1998:<\/strong> \u00a0\u00a0 Bachelor degree cum laude in Biological Sciences at the University of Naples (Italy), defending the thesis in Molecular Biology \u201c<em>Structural and evolutionary analysis of the human homology region Xq21.3\/Yp11.1<\/em>\u201d (tutor, dr. Michele D\u2019Urso).<\/li><\/ul><p><strong>RESEARCH APPOINTMENTS<br \/><\/strong><\/p><ul><li><strong>2021- present<\/strong>: coordinator of IGB Informatics Core, responsible of IGB website.<\/li><li><strong>2013-2016<\/strong>: coordinator of OBiLab (Open Bioinformatics Laboratory, http:\/\/www.igb.cnr.it\/obilab)<\/li><li><strong>2012 \u2013 present<\/strong>: Research Scientist at the IGB-ABT, CNR-Naples (Italy)<\/li><li><strong>2006-2007<\/strong>: Regional Center for Education (GEAR) -University of Naples \u201cFederico II\u201d- fellowship<\/li><li><strong>2004-2006<\/strong>: University of Padua (Italy) -Postdoctoral fellowship in Molecular and Cellular Biology<\/li><li><strong>2004<\/strong>: INSERM Institute, Dept. of Membrane trafficking and Neuronal Plasticity, Paris (France)- Visiting scientist<\/li><li><strong>2004<\/strong>: IGB-ABT, CNR-Naples (Italy)- CNR-Co.Co.Co. and Telethon Foundation fellowship<\/li><li><strong>2002-2003<\/strong>: IGB-ABT, CNR-Naples (Italy)- Telethon Foundation fellowship<\/li><li><strong>1999-2002<\/strong>: Faculty of Medicine &#8211; University of Naples \u201cFederico II\u201d- PhD student in Neurosciences<\/li><li><strong>1999-2000<\/strong>: IGB-ABT, CNR-Naples (Italy)- Post\u2212degree training<\/li><\/ul><p><strong>FUNDING<\/strong><\/p><ul><li><strong>2024-present: PRIN\/PNRR P2022ZE75A <\/strong>Ministero dell\u2019Universita e della Ricerca &#8220;<em>uNveiling thE genetic causes Of recurreNt implAnTation failurE<\/em> -NEONATE&#8221; (Unit Manager since March 2024)<\/li><li><strong>2024-present: PRIN 2020J84FAM <\/strong>Ministero dell\u2019Universita e della Ricerca &#8220;<em>Decipher unExpLored genetIc Variation in rEproductive failuRe-DELIVER&#8221; <\/em>(Unit Manager since March 2024)<strong><br \/><\/strong><\/li><li><strong>2023-present: PRIN2022WEHP7M <\/strong>Ministero dell\u2019Universita e della Ricerca &#8220;<em>ConcordAnce Between EmbRyonic aNd Extraembryonic Tissues<\/em>-CABERNET&#8221; (Unit member, then Unit Manager since March 2024)<\/li><\/ul><ul><li><strong>2019-2022:<\/strong> Associazione Italiana Sindrome di Rett (AIR)- Bando 2018 \u201c<em>Toward the pharmacological reactivation of Mecp2: developing new pre-clinical tools for the Rett syndrome<\/em>\u201d (Co-PI)<\/li><li><strong>2017-2019:<\/strong> Associazione Italiana Sindrome di Rett (AIR)- Bando 2016 \u201c<em>Reactivation of the dormant wild-type allele of Mecp2 as a therapy for Rett syndrome: screening of epigenetic compounds<\/em>\u201d (PI)<\/li><li><strong>2017-2019:<\/strong> Innovative Life sCience PhD program in South Italy-INCIPIT\u201d co-funded by EU-HORIZON 2020\/Marie Sklodowska Curie Action (Participant Unit, PhD fellow- dr. Yi-Shin Lee)- http:\/\/www.igb.cnr.it\/wpincipit\/index.php\/supervisor-2017<\/li><li><strong>2014-2015:<\/strong> Associazione Italiana Sindrome di Rett (AIR)- Bando 2014 \u201c<em>Utilizzo di due nuove potenti armi farmacologiche per sconfiggere i difetti neuronali della Sindrome di Rett<\/em>\u201d (Participant Unit)<\/li><\/ul><p><strong>TRAINING, TEACHING &amp; TUTORING <\/strong><\/p><ul><li><strong>2021-2022<\/strong>: Undergraduate student supervisor (Alessandra Palazzi)-&#8220;<em>Contributo allelico all\u2019espressione del gene Mecp2 durante lo sviluppo del cervello murino<\/em>&#8220;<\/li><li><strong>2019-2020<\/strong>: Undergraduate student supervisor (Antonietta Esposito)- \u201c<em>Caratterizzazione fenotipica e molecolare di una linea transgenica reporter per tracciare in vivo l&#8217;espressione allelica del gene X-linked Mecp2<\/em>\u201d<\/li><li><strong>2018-2020<\/strong>: Lecturer for PhD students (PhD Program in Biomolecular Sciences &#8211; Universit\u00e0 degli Studi della Campania Luigi Vanvitelli- \u201c<em>X inactivation\u00a0and reactivation in X-linked diseases<\/em>\u201d<\/li><li><strong>2017-2020<\/strong>: INCIPIT-PhD student supervisor (dr. Yi-Shin Lee)- \u201c<em>Toward the reactivation of the dormant allele of MECP2 as a therapy for Rett syndrome<\/em>\u201d<\/li><li><strong>2017-2018<\/strong>: Undergraduate student supervisor (Mariangela Manno)- \u201c<em>Riattivazione dell\u2019allele silente del gene Mecp2 come terapia per la sindrome di Rett: generazione di una nuova linea transgenica reporter<\/em>\u201d<\/li><li><strong>2010-2011<\/strong>: Supervisor PON Project C1-FSE-2010-2663<\/li><li><strong>2009-2010<\/strong>: Supervisor, PON Project &#8221; ob. B azione B1&#8243;<\/li><li><strong>2008-2011<\/strong>: Coordinator of the Regional Project PISA-OCSE<\/li><li><strong>2007-2012<\/strong>: Full-time teacher in the secondary school (Naples, Italy).<\/li><\/ul><p><strong>EVALUATION COMMITTEES<\/strong><\/p><ul><li><strong>2018:<\/strong> \u00a0\u00a0 Member of the Scientific committee REPRISE (MUR).<\/li><li><strong>2017 a:<\/strong> \u00a0 Evaluation Committee President for a public selection of Early Stage Researchers (INCIPIT project- \u201c<em>Unravelling genetic modifiers of Incontinentia Pigmenti and their role in the NF-kappaB pathway<\/em>\u201d)<\/li><li><strong>b:<\/strong> \u00a0\u00a0 Evaluation Committee member for a public selection of Early Stage Researchers (INCIPIT project- &#8220;<em>Reactivation of the dormant wild type allele MECP2 as a therapy for Rett syndrome: screening of epigenetic compounds&#8221;<\/em>)<\/li><li><strong>c:<\/strong> \u00a0\u00a0 Member of the Scientific committee at the 3rd edition of the Bringing Maths to Life Workshop, held in Naples on 7-9 June 2017 (http:\/\/www.bmtl.it).<\/li><li><strong>2016:<\/strong> \u00a0\u00a0 Editorial board member \u201cDynamics of Mathematical Models in Biology-Bringing Mathematics to Life\u201d book<\/li><\/ul><p><strong>AD HOC REVIEWER<\/strong><\/p><p>Solicited reviewer for International Journals of Springer.<\/p><p><strong>OUTREACH &amp; DISSEMINATION<\/strong><\/p><ul><li><strong>2021:\u00a0 <\/strong>Futuro Remoto 2021-Transizioni-La biomedicina verso il futuro- Rosalind Franklin: \u201cla Foto 51\u201d (lecturer and trainer)<\/li><li><strong>2019:<\/strong> The week of science- 5th edition-Convitto Nazionale Vittorio Emanuele II di Napoli (Coordinator and trainer)<\/li><li><strong>2018:<\/strong> 32\u00b0 Edizione di divulgazione scientifica, Futuro Remoto (trainer)<\/li><li><strong>2016- present:<\/strong> co-author of <a href=\"http:\/\/www.igb.cnr.it\/index.php\/airett\/\">VIVIRETT<\/a>\u00a0 official magazine of the Associazione Italiana Sindrome di Rett<\/li><\/ul>                    <\/div>\n\t\t        \n                    <div id=\"research-group-tab\" class=\"clearfix eael-tab-content-item inactive\" data-title-link=\"research-group-tab\">\n\t\t\t\t        <p><div class=\"tmm tmm_research-group-vacca\"><div class=\"tmm_2_columns tmm_wrap tmm_plugin_f\"><span class=\"tmm_two_containers_tablet\"><\/span><div class=\"tmm_container\"><div class=\"tmm_member\" style=\"border-top:#006293 solid 5px;\"><div class=\"tmm_photo tmm_pic_research-group-vacca_0\" style=\"background: url(https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2021\/11\/images.png); margin-left: auto; margin-right:auto; background-size:cover !important;\"><\/div><div class=\"tmm_textblock\"><div class=\"tmm_names\"><span class=\"tmm_fname\">Rosanna<\/span> <span class=\"tmm_lname\">Maione<\/span><\/div><div class=\"tmm_job\">Research Associate<\/div><div class=\"tmm_desc\" style=\"text-align:\"><div class=\"title\"><span class=\"purple\" style=\"color: #993300\"><em>I have a master degree in Medical Biotechnology from the University of Naples Federico II and a master in Embryology. I am an expert in embryology and assisted human reproduction.<\/em><\/span><\/div><p>I am in charge of recruitment, sample collection and processing for the projects related to the genomics of early embryonic development. I am responsible for building the DNA and tissue collections.<\/p><\/div><div class=\"tmm_scblock\"><\/div><\/div><\/div><div class=\"tmm_member\" style=\"border-top:#006293 solid 5px;\"><div class=\"tmm_photo tmm_pic_research-group-vacca_1\" style=\"background: url(https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/01\/DSC_0106.jpg); margin-left: auto; margin-right:auto; background-size:cover !important;\"><\/div><div class=\"tmm_textblock\"><div class=\"tmm_names\"><span class=\"tmm_fname\">Alessandra<\/span> <span class=\"tmm_lname\">Palazzi<\/span><\/div><div class=\"tmm_job\">Undergraduate Student (September 2021- October 2022)<\/div><div class=\"tmm_desc\" style=\"text-align:\"><p><strong>Project title &amp; Master thesis defense on: <\/strong>Allelic contribution to MeCP2 expression in mouse brain development (October 18th 2022, <em>magna cum laude<\/em>)<\/p><p><strong>Current position: <\/strong>PhD in Medicina Molecolare e Biotecnologie mediche (dr. G. Pierantoni&#8217;s lab at the Universit\u00e0 degli Studi di Napoli Federico II).<\/p><p><a href=\"https:\/\/www.facebook.com\/ale.palazzi\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-13361 alignnone\" src=\"http:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/d518eceea19f4b1a2ee032ddc634dd7d.jpg\" alt=\"\" width=\"36\" height=\"36\" srcset=\"https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/d518eceea19f4b1a2ee032ddc634dd7d.jpg 640w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/d518eceea19f4b1a2ee032ddc634dd7d-300x300.jpg 300w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/d518eceea19f4b1a2ee032ddc634dd7d-150x150.jpg 150w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/d518eceea19f4b1a2ee032ddc634dd7d-510x510.jpg 510w\" sizes=\"(max-width: 36px) 100vw, 36px\" \/><\/a> <a href=\"https:\/\/www.linkedin.com\/in\/alessandra-palazzi-1748a2210\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-13360 alignnone\" src=\"http:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/linkedin.png\" alt=\"\" width=\"36\" height=\"36\" srcset=\"https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/linkedin.png 512w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/linkedin-300x300.png 300w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/linkedin-150x150.png 150w, https:\/\/www.igb.cnr.it\/wp-content\/uploads\/2022\/02\/linkedin-510x510.png 510w\" sizes=\"(max-width: 36px) 100vw, 36px\" \/><\/a><\/p><\/div><div class=\"tmm_scblock\"><\/div><\/div><\/div><div style=\"clear:both;\"><\/div><\/div><\/div><\/div><\/p>                    <\/div>\n\t\t                    <\/div>\n        <\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Marcella Vacca Senior Researcher \u00a0 +39 081 6132 219 \u00a0\u00a0 marcella.vacca@igb.cnr.it Genetics, Genomics and Epigenetics of Diseases Keywords: sex chromosomes, MeCP2, Rett Syndrome, X chromosome inactivation and reactivation, autism spectrum disorders, mouse and cellular models, bioinformatics, human genetics. Twitter Orcid Research Interest Selected Publications Professional Experience Research Group EVOLUTION, EPIGENETICS AND POST-TRANSCRIPTIONAL REGULATION OF human [&hellip;]<\/p>\n","protected":false},"author":14,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"cybocfi_hide_featured_image":"","footnotes":""},"class_list":["post-2488","page","type-page","status-publish","czr-hentry"],"_links":{"self":[{"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/pages\/2488","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/users\/14"}],"replies":[{"embeddable":true,"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/comments?post=2488"}],"version-history":[{"count":265,"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/pages\/2488\/revisions"}],"predecessor-version":[{"id":19488,"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/pages\/2488\/revisions\/19488"}],"wp:attachment":[{"href":"https:\/\/www.igb.cnr.it\/index.php\/wp-json\/wp\/v2\/media?parent=2488"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}