{"id":788,"date":"2017-02-26T18:53:03","date_gmt":"2017-02-26T18:53:03","guid":{"rendered":"https:\/\/www.progeriaresearch.org\/?page_id=788"},"modified":"2023-09-21T12:51:17","modified_gmt":"2023-09-21T16:51:17","slug":"medical-database","status":"publish","type":"page","link":"https:\/\/www.progeriaresearch.org\/it\/medical-database\/","title":{"rendered":"Banca dati medica"},"content":{"rendered":"<p>Italiano: [et_pb_section fb_built=\u201d1\u2033 fullwidth=\u201don\u201d disabled_on=\u201doff|off|off\u201d _builder_version=\u201d4.16\u2033 border_width_bottom=\u201d55px\u201d border_color_bottom=\u201d#29327a\u201d locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_fullwidth_header _builder_version=\u201d4.16\u2033 title_font=\u201d||||||||\u201d dimensione_font_titolo=\u201d55\u2033 colore_sfondo=\u201d#29327a\u201d immagine_sfondo=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2020\/12\/Jes.jpg\u201d posizione_sfondo=\u201dcentro_sinistra\u201d riempimento_personalizzato=\u201d11.5vw||11.5vw||vero\u201d riempimento_personalizzato_tablet=\u201d\u201d riempimento_personalizzato_telefono=\u201d|56px||\u201d riempimento_personalizzato_ultimo_modificato=\u201dsu|desktop\u201d dimensione_font_titolo_tablet=\u201d45px\u201d dimensione_font_titolo_phone=\u201d40px\u201d dimensione_font_titolo_last_edited=\u201dsu|telefono\u201d z_index_tablet=\u201d500\u2033 elemento_css_principale=\u201dposizione-sfondo: centro 18% !important;\u201d informazioni_colori_personalizzate=\u201d{}\u201d]<\/p>\n<h1 class=\"vc_custom_heading\" data-fontsize=\"34\" data-lineheight=\"48\">Medico <br \/>Banca dati<\/h1>\n<p>[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 specialty=\u201don\u201d padding_left_1=\u201d35px\u201d padding_left_2=\u201d35px\u201d padding_2_tablet=\u201d|||0px\u201d padding_2_phone=\u201d|||0px\u201d padding_2_last_edited=\u201don|desktop\u201d module_class_1=\u201dsidebar-secondary-nav\u201d module_class=\u201dhandprint-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d parallax=\u201don\u201d parallax_method=\u201doff\u201d larghezza_interna=\u201d100%\u201d larghezza_interna_massima=\u201d100%\u201d imbottitura_personalizzata=\u201d0|0px|54px|0px|falso|falso\u201d z_index_tablet=\u201d500\u2033 larghezza_interna_massima=\u201d10px\u201d colore_interna_massima=\u201d#8fd2ed\u201d usa_larghezza_personalizzata=\u201don\u201d unit\u00e0_di_larghezza=\u201doff\u201d percentuale_larghezza_personalizzata=\u201d100%\u201d info_colori_globali=\u201d{}\u201d][et_pb_column tipo=\u201d1_4\u2033 versione_builder=\u201d4.16\u2033 imbottitura_personalizzata=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_1\u2033 disabled_on=\u201don|on|off\u201d module_class=\u201dsubpage-sidebars\u201d _builder_version=\u201d4.16\u2033 animation_style=\u201dfade\u201d z_index_tablet=\u201d500\u2033 border_width_right=\u201d5px\u201d locked=\u201doff\u201d global_colors_info=\u201d{}\u201d]<br \/>\nItaliano: [\/et_pb_sidebar][\/et_pb_column][et_pb_column type=\u201d3_4\u2033 specialty_columns=\u201d3\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_row_inner _builder_version=\u201d4.16\u2033 background_color=\u201d#00b2e2\u2033 custom_margin=\u201d41px||\u201d custom_margin_tablet=\u201d0px||\u201d custom_margin_phone=\u201d\u201d custom_margin_last_edited=\u201don|phone\u201d custom_padding=\u201d39.4375px|20px|0|20px|false|true\u201d animation_style=\u201dslide\u201d animation_direction=\u201dtop\u201d animation_intensity_slide=\u201d25%\u201d box_shadow_style=\u201dpreset1\u2033 box_shadow_blur=\u201d38px\u201d box_shadow_spread=\u201d-12px\u201d locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dChe cos&#039;\u00e8 il database medico e di ricerca internazionale?\u201d _builder_version=\u201d4.16\u2033 header_2_line_height=\u201d1.2em\u201d background_layout=\u201dscuro\u201d custom_margin=\u201d||35px\u201d custom_padding=\u201d|||\u201d custom_padding_tablet=\u201d|50px||50px||true\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201don|desktop\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d\u201d header_font_size_last_edited=\u201don|desktop\u201d header_2_font_size_tablet=\u201d25px\u201d header_2_font_size_phone=\u201d\u201d header_2_font_size_last_edited=\u201don|tablet\u201d header_4_font_size_tablet=\u201d\u201d header_4_font_size_phone=\u201d19px\u201d header_4_font_size_last_edited=\u201don|phone\u201d header_4_line_height_tablet=\u201d\u201d header_4_line_height_phone=\u201d1.2em\u201d header_4_line_height_last_edited=\u201don|phone\u201d z_index_tablet=\u201d500\u2033 informazioni_globali_colori=\u201d{}\u201d]<\/p>\n<h2 style=\"text-align: center;\"><strong>Che cos&#039;\u00e8 l&#039;International Medical and Research Database?<\/strong><\/h2>\n<p>Italiano: [\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner custom_padding_last_edited=\u201don|phone\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||20px\u201d custom_padding=\u201d|35px|0|0px|false|false\u201d custom_padding_tablet=\u201d|35px||35px||true\u201d custom_padding_phone=\u201d\u201d animation_direction=\u201dtop\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.17.4\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201dripeti\u201d global_colors_info=\u201d{}\u201d]<\/p>\n<p>Raccogliamo le cartelle cliniche dei bambini con Progeria da tutto il mondo. Poi esaminiamo ogni aspetto dell&#039;assistenza medica che \u00e8 stata data ai bambini. Eseguiamo analisi statistiche e vediamo quali trattamenti hanno funzionato per mantenere la qualit\u00e0 della vita e quali trattamenti non hanno funzionato. La maggior parte dei dottori ha visto solo un bambino con Progeria e non sa cosa fare quando il bambino ha bisogno di cose come farmaci per il cuore, anestesia e fisioterapia adeguata. Abbiamo la capacit\u00e0 di dare consigli ai dottori e alle loro famiglie sulla base di questo programma di database.<\/p>\n<p>La Progeria Research Foundation collabora con il Brown University Center for Gerontology and Health Care Research per questo meraviglioso progetto. Il Brown Center ha molti anni di esperienza nella creazione e nell&#039;analisi di database sanitari.<\/p>\n<p>Utilizziamo anche le cartelle cliniche per comprendere meglio le basi della malattia nella Progeria, che servono da trampolino di lancio per nuove ricerche sulla Progeria e sulle malattie dell&#039;invecchiamento come le malattie cardiache. Ci\u00f2 potrebbe portare a indizi per nuovi trattamenti per i bambini e per tutti noi!<\/p>\n<p>Non \u00e8 mai esistito un database centralizzato sulla Progeria infantile da cui attingere informazioni sanitarie. Ci\u00f2 ha portato a maltrattamenti clinici involontari dei pazienti, diagnosi errate e diagnosi ritardate, semplicemente perch\u00e9 chi si prende cura di loro non sa quali strategie mediche hanno avuto successo con altri bambini con Progeria e quali no. L&#039;obiettivo di questo progetto \u00e8 raccogliere le cartelle cliniche dei bambini con Progeria e sviluppare un database sanitario centralizzato da utilizzare da parte di professionisti sanitari, ricercatori medici e famiglie di bambini con Progeria.<\/p>\n<h4><strong>Obiettivi del database<\/strong><\/h4>\n<ul>\n<li>Descrivere in dettaglio quali strategie di trattamento hanno avuto successo e quali trattamenti hanno fallito per i problemi medici affrontati dai bambini con HGPS. Ci\u00f2 pu\u00f2 aiutare le famiglie e i loro medici a capire come prendersi cura al meglio dei bambini con Progeria.<\/li>\n<li>Fornire alle famiglie raccomandazioni sanitarie in un linguaggio non medico su questioni importanti per la qualit\u00e0 della vita dei bambini affetti da HGPS.<\/li>\n<li>Il database \u00e8 una risorsa per acquisire nuove informazioni sulla natura dell&#039;HGPS e sulla natura di altre malattie come l&#039;aterosclerosi, il che a sua volta contribuir\u00e0 a stimolare il progresso di nuovi progetti di ricerca.<\/li>\n<\/ul>\n<h4><strong>Approvazioni del comitato di revisione istituzionale:<\/strong><\/h4>\n<p>Il database PRF Medical and Research \u00e8 approvato dall&#039;Institutional Review Board (IRB) del Rhode Island Hospital e dai comitati della Brown University sulla protezione dei soggetti umani. Rhode Island Hospital Federal Wide Assurance FWA00001230, studio CMTT# 0152-01, Brown University Federal Wide Assurance FWA 00004460, studio CMTT# 0211991243<\/p>\n<h4 style=\"font-weight: 400;\"><strong>Utilizzo dei materiali nelle pubblicazioni:<\/strong><\/h4>\n<p style=\"font-weight: 400;\">Per tutte le pubblicazioni derivanti dall&#039;uso di informazioni ottenute da The Progeria Research Foundation Medical and Research Database, i ricercatori sono tenuti a includere la seguente citazione nella sezione materiali e metodi (non semplicemente i ringraziamenti). Questa formulazione pu\u00f2 variare leggermente, a seconda delle informazioni fornite per la ricerca.<\/p>\n<p style=\"font-weight: 400;\">\u201cLe informazioni cliniche deidentificate sono state ottenute dal database medico e di ricerca della Progeria Research Foundation (PRF) (<a href=\"https:\/\/www.progeriaresearch.org\/it\/\" data-saferedirecturl=\"https:\/\/www.google.com\/url?q=https:\/\/www.progeriaresearch.org&amp;source=gmail&amp;ust=1656539975208000&amp;usg=AOvVaw2-Ugfzc0IoTq-jMG-qMW0F\">www.progeriaresearch.org<\/a>).\u201d<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 _builder_version=\u201d4.16\u2033 background_color=\u201d#29327a\u201d custom_padding=\u201d40px|35px|35.2344px|35px|false|true\u201d animation_style=\u201dslide\u201d animation_direction=\u201dright\u201d animation_intensity_slide=\u201d25%\u201d border_width_bottom=\u201d10px\u201d border_color_bottom=\u201d#8fd2ed\u201d locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dPubblicazioni derivanti dal database medico e di ricerca della Progeria Research Foundation\u201d _builder_version=\u201d4.16\u2033 header_text_align=\u201dcenter\u201d header_text_color=\u201d#ffffff\u201d background_layout=\u201ddark\u201d animation_style=\u201dfade\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n<h2 style=\"text-align: center;\"><strong>Pubblicazioni derivanti dal database medico e di ricerca della Progeria Research Foundation<\/strong><\/h2>\n<p>\u00a0<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner column_structure=\u201d1_2,1_2\u2033 custom_padding_last_edited=\u201don|phone\u201d padding_left_right_link_1=\u201dfalse\u201d padding_left_right_link_2=\u201dfalse\u201d _builder_version=\u201d4.16\u2033 custom_padding=\u201d|35px|0|0px|false|false\u201d custom_padding_tablet=\u201d|35px||35px||true\u201d custom_padding_phone=\u201d\u201d animation_direction=\u201dtop\u201d border_width_bottom=\u201d10px\u201d border_color_bottom=\u201d#8fd2ed\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner type=\u201d1_2\u2033 saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|20px||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.16\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n<p>Il database medico e di ricerca della Progeria Research Foundation ha contribuito alle seguenti pubblicazioni mediche:<\/p>\n<p><strong>Manuale di assistenza clinica<\/strong><\/p>\n<p><em>The Progeria Handbook; una guida per le famiglie e gli operatori sanitari dei bambini affetti da progeria.<\/em> Gordon, Leslie B., Direttore esecutivo. Copyright 2019 di The Progeria Research Foundation. Tutti i diritti riservati.<\/p>\n<p>\u00a0La prima edizione del manuale \u00e8 disponibile in spagnolo e portoghese. Le traduzioni della seconda edizione del manuale in spagnolo e portoghese saranno pubblicate quando disponibili.<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][et_pb_column_inner type=\u201d1_2\u2033 saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||15px\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_button button_url=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/01\/Handbook-2018-PDF-One-File-v3-1.pdf\u201d url_new_window=\u201don\u201d button_text=\u201d2a edizione \u2013 Inglese\u201d button_alignment=\u201dcenter\u201d admin_label=\u201d2a edizione \u2013 Inglese\u201d _builder_version=\u201d4.16\u2033 background_layout=\u201dscuro\u201d margine_personalizzato=\u201d||20px\u201d stile_animazione=\u201ddiapositiva\u201d direzione_animazione=\u201ddestra\u201d intensit\u00e0_animazione_diapositiva=\u201d25%\u201d indice_z_tablet=\u201d500\u2033 elemento_principale_css=\u201dlarghezza: 70%;\u201d informazioni_colori_globali=\u201d{}\u201d]<br \/>\n[\/et_pb_button][et_pb_button button_url=&#8221;https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf&#8221; url_new_window=&#8221;on&#8221; button_text=&#8221;1st Edition &#8211; Spanish&#8221; button_alignment=&#8221;center&#8221; admin_label=&#8221;1st Edition &#8211; Spanish&#8221; _builder_version=&#8221;4.16&#8243; background_layout=&#8221;dark&#8221; custom_margin=&#8221;||20px&#8221; animation_style=&#8221;slide&#8221; animation_direction=&#8221;right&#8221; animation_intensity_slide=&#8221;25%&#8221; z_index_tablet=&#8221;500&#8243; custom_css_main_element=&#8221;width: 70%;&#8221; global_colors_info=&#8221;{}&#8221;]<br \/>\n[\/et_pb_button][et_pb_button button_url=\u201dhttps:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/Handbook\u2014Portuguese.pdf\u201d button_text=\u201d1a edizione \u2013 Portoghese\u201d button_alignment=\u201dcenter\u201d admin_label=\u201d1a edizione \u2013 Portoghese\u201d _builder_version=\u201d4.16\u2033 background_layout=\u201ddark\u201d custom_margin=\u201d||20px\u201d animation_style=\u201dslide\u201d animation_direction=\u201dright\u201d animation_intensity_slide=\u201d25%\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dwidth: 70%;\u201d global_colors_info=\u201d{}\u201d]<br \/>\nItaliano: [\/et_pb_button][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner custom_padding_last_edited=\u201don|phone\u201d _builder_version=\u201d4.16\u2033 custom_padding=\u201d0|35px|0|0px|false|false\u201d custom_padding_tablet=\u201d|35px||35px||true\u201d custom_padding_phone=\u201d\u201d animation_direction=\u201dtop\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dArticoli di giornale\u201d _builder_version=\u201d4.17.6\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201dripeti\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n<h4><strong>Articoli di giornale<\/strong><\/h4>\n<p class=\"m_5556619090296294739MsoNoSpacing\"><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35752705\/\" target=\"_blank\" data-saferedirecturl=\"https:\/\/www.google.com\/url?q=https:\/\/pubmed.ncbi.nlm.nih.gov\/35752705\/&amp;source=gmail&amp;ust=1658414740427000&amp;usg=AOvVaw3JN2-5dxsoBxFs9Lk6gXDY\" rel=\"noopener\">L&#039;ematopoiesi clonale non \u00e8 prevalente nella sindrome di progeria di Hutchinson-Gilford<\/a><\/strong><br \/><span><u><\/u><u><\/u><\/span><span>D\u00edez-D\u00edez M, Amor\u00f3s-P\u00e9rez M, de la Barrera J, et al. [pubblicato online prima della stampa, 25 giugno 2022]. Geroscienza. 2022;10.1007\/s11357-022-00607-<wbr \/>2.doi:10.1007\/s11357-022-00607-2<\/span><\/p>\n<p><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29710166\/?from_term=Gordon+LB+Association+of+&amp;from_pos=1\" target=\"_blank\" rel=\"noopener noreferrer\">Associazione tra trattamento con lonafarnib e nessun trattamento con il tasso di mortalit\u00e0 nei pazienti con sindrome di Hutchinson-Gilford.<\/a><\/strong><br \/>Gordon LB, Shappell H, Massaro J, D&#039;Agostino RB Sr, Brazier J, Campbell SE, Kleinman ME, Kieran MW.Gordon LB, et al. JAMA. 24 aprile 2018;319(16):1687-1695. doi: 10.1001\/jama.2018.3264.<\/p>\n<p><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30450527\/?from_term=lessel+d&amp;from_page=4&amp;from_pos=4\" target=\"_blank\" rel=\"noopener noreferrer\">L&#039;analisi dei casi di progeroidi giovanili LMNA-negativi conferma le mutazioni bialleliche POLR3A nella sindrome tipo Wiedemann-Rautenstrauch e amplia lo spettro fenotipico delle mutazioni PYCR1.<\/a><\/strong><br \/>Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Sz\u0151ll\u0151s A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, N\u00fcrnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.Lessel D, et al. Ehm, Genet. 2018 dicembre;137(11-12):921-939. doi: 10.1007\/s00439-018-1957-1. Epub 2018 nov 19.Hum Genet. 2018. PMID: 30450527<\/p>\n<p><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29581305\/?from_term=dubose+a&amp;from_pos=1\" target=\"_blank\" rel=\"noopener noreferrer\">L&#039;everolimus corregge molteplici difetti cellulari nei fibroblasti dei pazienti affetti da laminopatia. <\/a><\/strong><br \/>DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS.DuBose AJ, et al. Proc Natl Acad Sci US A. 2018 17 aprile;115(16):4206-4211. doi: 10.1073\/pnas.1802811115. Epub 2018 26 marzo.Proc Natl Acad Sci US A. 2018. PMID: 29581305<\/p>\n<p><strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28756152\" target=\"_blank\" rel=\"noopener noreferrer\">Caratteristiche oftalmologiche della progeria.<br \/><\/a><\/strong>Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.<br \/>Am J Ophthalmol. 27 luglio 2017. pii: S0002-9394(17)30317-3. doi: 10.1016\/j.ajo.2017.07.020. [Pubblicazione elettronica prima della stampa]<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27920058\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Una nuova mutazione somatica salva parzialmente un bambino affetto dalla sindrome di progeria di Hutchinson-Gilford.<\/strong><br \/><\/a>Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB.<br \/>J Med Genet. 2017 marzo;54(3):212-216. doi: 10.1136\/jmedgenet-2016-104295. Epub 2016, 5 dicembre.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27799555\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Difetti elettrici cardiaci nei topi progeroidi e nei pazienti affetti dalla sindrome di progeria di Hutchinson-Gilford con alterazioni della lamina nucleare.<\/strong><br \/><\/a>Rivera-Torres J, Calvo CJ, Llach A, Guzm\u00e1n-Mart\u00ednez G, Caballero R, Gonz\u00e1lez-G\u00f3mez C, Jim\u00e9nez-Borreguero LJ, Guadix JA, Osorio FG, L\u00f3pez-Ot\u00edn C, Herraiz-Mart\u00ednez A, Cabello N, Vallmitjana A , Ben\u00edtez R, Gordon LB, Jalife J, P\u00e9rez-Pomares JM, Tamargo J, Delp\u00f3n E, Hove-Madsen L, Filgueiras-Rama D, Andr\u00e9s V.<br \/>Proc Natl Acad Sci US A. 2016 15 novembre;113(46):E7250-E7259. Epub 2016 31 ottobre.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27400896\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Sperimentazione clinica degli inibitori della farnesilazione proteica Lonafarnib, Pravastatina e Acido Zoledronico nei bambini con sindrome di Hutchinson-Gilford.<\/strong><br \/><\/a>Gordon LB, Kleinman ME, Massaro J, D&#039;Agostino RB Sr, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW.<br \/>Circolazione. 12 luglio 2016;134(2):114-25. doi: 10.1161\/CIRCULATIONAHA.116.022188.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26564085\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Sindrome di progeria di Hutchinson-Gilford.<\/strong><br \/><\/a>Ullrich NJ, Gordon LB.<br \/>Neurologia clinica.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24795390\"><strong>Impatto degli inibitori della farnesilazione sulla sopravvivenza nella sindrome di progeria di Hutchinson-Gilford.<\/strong><br \/><\/a>Gordon LB, Massaro J, D&#039;Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Progeria Clinical Trials Collaborative.<br \/>Circolazione. 1 luglio 2014;130(1):27-34. doi: 10.1161\/CIRCULATIONAHA.113.008285. Epub 2 maggio 2014.<\/p>\n<p><strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24456199\">Manifestazioni cutanee iniziali della sindrome di Hutchinson-Gilford.<\/a>\u00a0<\/strong>Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 24 gennaio 2014: 1-7. doi: 10.1111\/pde.12284.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23897869\"><b>Neurologico<\/b>\u00a0<b>caratteristiche<\/b>\u00a0Di\u00a0<b>Hutchinson Gilford<\/b>\u00a0sindrome di progeria dopo trattamento con lonafarnib.<br \/><\/a>Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. <i>Neurologia<\/i>. 30 luglio 2013;81(5):427-30. doi: 10.1212\/WNL.0b013e31829d85c0. Epub 28 giugno 2013.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23179651\"><b>Immagine<\/b>\u00a0<b>caratteristiche<\/b>\u00a0Di\u00a0<b>cerebrovascolare<\/b>\u00a0<b>arteriopatia<\/b>\u00a0E\u00a0<b>colpo<\/b>\u00a0nella sindrome di progeria di Hutchinson-Gilford.<\/a> Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.<br \/><i>AJNR Am J Neuroradiologia<\/i>. 2013 maggio;34(5):1091-7. doi: 10.3174\/ajnr.A3341. Epub 22 novembre 2012.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22460337\"><b>Anomalie craniofacciali<\/b>\u00a0In\u00a0<b>Hutchinson<\/b>-Sindrome di progeria di Gilford.<br \/><\/a>Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. <i>AJNR Am J Neuroradiologia<\/i>. Settembre 2012;33(8):1512-8. doi: 10.3174\/ajnr.A3088. Epub 2012, 29 marzo.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23012407\"><b>Sperimentazione clinica<\/b>\u00a0di un\u00a0<b>farnesiltransferasi<\/b>\u00a0<b>inibitore<\/b>\u00a0In\u00a0<b>bambini<\/b>\u00a0con\u00a0<b>Hutchinson<\/b>-Sindrome di progeria di Gilford.<\/a> Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. <i>Proc Natl Acad Sci USA<\/i>. 2012 9 ottobre;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Epub 2012 24 settembre<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22083160\"><b>Meccanismi<\/b>\u00a0Di\u00a0<b>precoce<\/b>\u00a0<b>vascolare<\/b>\u00a0<b>invecchiamento<\/b>\u00a0In\u00a0<b>bambini<\/b>\u00a0con\u00a0<b>Hutchinson<\/b>-Sindrome di progeria di Gilford.<\/a> Giocatore: Gerhard-Herman, terzino sinistro Smoot, centrocampista: Wake, MW: Kieran, centrocampista: Kleinman, centrocampista: Miller, DT: Schwartzman, ala: Giobbie-Hurder, difesa: Neuberg, LB: Gordon. <i>Ipertensione<\/i>. 2012 gennaio;59(1):92-7. doi: 10.1161\/HYPERTENSIONAHA.111.180919. Epub 2011 novembre 14.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22752073\"><strong>Uno studio prospettico delle manifestazioni radiografiche nella sindrome di progeria di Hutchinson-Gilford.<\/strong><br \/><\/a>Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, Nazarian A, Giobbie-Hurder A, Neuberg D, Kieran MW. <i>Pediatra Radiologo<\/i>. 2012 settembre;42(9):1089-98. doi: 10.1007\/s00247-012-2423-1. Epub 2012 luglio 1.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21980471\"><b>Basso<\/b>\u00a0E\u00a0<b>alto<\/b>\u00a0<b>esprimendo<\/b>\u00a0<b>alleli<\/b>\u00a0del gene LMNA: implicazioni per lo sviluppo della laminopatia.<\/a> Rodr\u00edguez S, Eriksson M. <i>PLoS Uno<\/i>. 2011;6(9):e25472. doi: 10.1371\/journal.pone.0025472. Epub 29 settembre 2011.<br \/><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21445982\"><b><br \/>Hutchinson Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0\u00e8 un\u00a0<b>scheletrico<\/b>\u00a0displasia.<\/a> Italiano: Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, Giobbie-Hurder A, Neuberg D, Cleveland R, Kleinman M, Miller DT, Kieran MW. <i>J Bone Miner Res<\/i>. 2011 luglio;26(7):1670-9. doi: 10.1002\/jbmr.392.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20798379\"><b>Patologia cardiovascolare<\/b>\u00a0In\u00a0<b>Hutchinson<\/b>-Progeria di Gilford: correlazione con la vascolarizzazione<b>patologia<\/b>\u00a0dell&#039;invecchiamento.<\/a> Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. <i>Arteriosclerosi Trombo Vasc Biol<\/i>. 2010 novembre;30(11):2301-9. doi: 10.1161\/ATVBAHA.110.209460. Epub 26 agosto 2010.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19236595\"><b>Hutchinson Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0<b>sindrome<\/b>:\u00a0<b>orale<\/b>\u00a0e fenotipi craniofacciali.<\/a> Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. <i>Orale<\/i><i>\u00a0<\/i><i>Dis<\/i>. 2009 aprile;15(3):187-95. doi: 10.1111\/j.1601-0825.2009.01521.x. Epub 2009 febbraio 19.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18334552\"><b>Mirato<\/b>\u00a0<b>transgenico<\/b>\u00a0<b>espressione<\/b>\u00a0del\u00a0<b>mutazione<\/b>\u00a0<b>causando<\/b>\u00a0La sindrome di progeria di Hutchinson-Gilford provoca una malattia epidermica proliferativa e degenerativa.<\/a> Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. <i>J Scienze delle cellule<\/i>. 1 aprile 2008;121(Pt 7):969-78. doi: 10.1242\/jcs.022913. Epub 11 marzo 2008.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18708427\"><b>Reversibile<\/b>\u00a0<b>fenotipo<\/b>\u00a0in un\u00a0<b>topo<\/b>\u00a0modello della sindrome di progeria di Hutchinson-Gilford.<br \/><\/a>Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. <i>J Med Genet<\/i>. Dicembre 2008;45(12):794-801. doi: 10.1136\/jmg.2008.060772. Epub 2008, 15 agosto.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18256394\"><b>Fenotipo<\/b>\u00a0E\u00a0<b>corso<\/b>\u00a0Di\u00a0<b>Hutchinson<\/b>-Sindrome di progeria di Gilford.<\/a> Italiano: Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. <i>Inglese N J Med<\/i>. 7 febbraio 2008;358(6):592-604. doi: 10.1056\/NEJMoa0706898.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908771\"><b>Nuovo<\/b>\u00a0<b>approcci<\/b>\u00a0A\u00a0<b>progeria<\/b>.<\/a> Kieran MW, Gordon L, Kleinman M. Pediatria. 2007 ottobre;120(4):834-41. Revisione. Erratum in: <i>Pediatria<\/i>. 2007 dicembre;120(6):1405.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908770\"><b>Progressione della malattia<\/b>\u00a0In\u00a0<b>Hutchinson Gilford<\/b>\u00a0Sindrome di progeria: impatto sulla crescita e sullo sviluppo.<\/a> Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. <i>Pediatria<\/i>. 2007 ottobre;120(4):824-33.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15756215\"><b>Ridotto<\/b>\u00a0<b>adiponectina<\/b>\u00a0E\u00a0<b>Colesterolo HDL<\/b>\u00a0senza\u00a0<b>elevato<\/b>\u00a0<b>Proteina C-reattiva<\/b>: indizi sulla biologia dell&#039;aterosclerosi precoce nella sindrome di Hutchinson-Gilford Progeria.<\/a> Gordon LB, Harten IA, Patti ME, Lichtenstein AH. <i>J Pediatra<\/i>. 2005 marzo;146(3):336-41.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16129833\"><b>Inibendo<\/b>\u00a0<b>farnesilazione<\/b>\u00a0della progerina previene la caratteristica formazione di bolle nucleari di Hutchinson-Gilford\u00a0<b>progeria<\/b>\u00a0sindrome.<\/a> Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. <i>Proc Natl Acad Sci USA<\/i>. 2005 6 settembre;102(36):12879-84. Epub 2005 29 agosto<\/p>\n<p class=\"details\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15184648\"><b>Accumulo<\/b>\u00a0Di\u00a0<b>mutante<\/b>\u00a0<b>lamina A<\/b>\u00a0<b>cause<\/b>\u00a0cambiamenti progressivi nell&#039;architettura nucleare nella sindrome di progeria di Hutchinson-Gilford.<\/a> Marco De Santis, ... <i>Proc Natl Acad Sci USA<\/i>. 15 giugno 2004;101(24):8963-8. Epub 2004, 7 giugno.<\/p>\n<h4><strong>Libri e documenti<\/strong><\/h4>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">Sindrome di Hutchinson-Gilford Progeria.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, curatori. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.<br \/>12 dicembre 2003 [aggiornato il 6 gennaio 2011].<\/p>\n<div class=\"wpb_text_column wpb_content_element\">\n<div class=\"wpb_wrapper\">\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">Sindrome di Hutchinson-Gilford Progeria.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, curatori. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.<br \/>12 dicembre 2003 [aggiornato il 6 gennaio 2011].<\/p>\n<p>The Premature Aging Syndrome Hutchinson-Gilford Progeria: Insights Into Normal Aging. Gordon, Leslie. Capitolo nella settima edizione di\u00a0<em>Manuale di medicina geriatrica e gerontologia di Brocklehurst<\/em>Diritti d&#039;autore: 2010.<\/p>\n<p><em>LMNA<\/em>\u00a0e la sindrome di progeria di Hutchinson-Gilford e laminopatie associate. Gordon LB, Brown WT, Rothman FG. In CJ Epstein, RP Erickson, A. Wynshaw-Boris (a cura di)<em>\u00a0Errori congeniti dello sviluppo: le basi molecolari dei disturbi clinici della morfogenesi<\/em>\u00a0(2<sup>e<\/sup>\u00a0ed.). New York, NY: Oxford University Press. 2008 139: 1219-1229.<\/p>\n<\/div>\n<\/div>\n<p>Italiano: [\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 module_class=\u201dfooter\u201d _builder_version=\u201d4.21.0\u2033 background_color=\u201d#29327a\u201d custom_margin=\u201d-2px|||||\u201d custom_padding=\u201d0|0px|0|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d12px\u201d border_color_top=\u201d#00b2e2\u2033 global_module=\u201d133\u2033 locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_row column_structure=\u201d1_4,1_4,1_2\u2033 make_equal=\u201don\u201d module_class=\u201d et_pb_row_fullwidth\u201d _builder_version=\u201d4.16\u2033 width=\u201d89%\u201d width_tablet=\u201d80%\u201d width_phone=\u201d\u201d width_last_edited=\u201don|desktop\u201d max_width=\u201d89%\u201d max_width_tablet=\u201d80%\u201d max_width_phone=\u201d\u201d max_width_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 make_fullwidth=\u201don\u201d width_unit=\u201doff\u201d custom_width_percent=\u201d100%\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_cta button_url=\u201dhttps:\/\/www.progeriaresearch.org\/newsletter-signup\/\u201d button_text=\u201dIscriviti ora\u201d admin_label=\u201dIscriviti alla newsletter\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d animation_style=\u201dslide\u201d animation_direction=\u201dleft\u201d animation_intensity_slide=\u201d25%\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii=&quot;on|25px|25px|25px|25px&quot; global_colors_info=&quot;{}&quot; button_bg_color__hover_enabled=&quot;on&quot; button_bg_color__hover=&quot;#8fd2ed&quot; button_border_color__hover_enabled=&quot;on&quot;]<\/p>\n<h2>Iscrizione<\/h2>\n<h2>per il nostro<\/h2>\n<h2>Iscriviti alla newsletter!<\/h2>\n<p>[\/et_pb_cta][\/et_pb_column][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_cta button_url=\u201dhttps:\/\/progeriaresearch.donorsupport.co\/-\/XZHJVWZR\u201d button_text=\u201dFai una donazione ora\u201d admin_label=\u201dInsieme troveremo la cura!\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d animation_style=\u201dslide\u201d animation_direction=\u201dleft\u201d animation_intensity_slide=\u201d25%\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d body_font_size_tablet=\u201d\u201d body_font_size_phone=\u201d\u201d body_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii=\u201don|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201don\u201d colore_bg_pulsante__hover=\u201d#8fd2ed\u201d colore_bordo_pulsante__hover_abilitato=\u201don\u201d]<\/p>\n<h2>Insieme, noi<\/h2>\n<h2><em>VOLERE<\/em><\/h2>\n<h2>trova la cura!<\/h2>\n<p>[\/et_pb_cta][\/et_pb_column][et_pb_column tipo=\u201d1_2\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_image src=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2023\/06\/2023-footer-strip-5.png\u201d title_text=\u201dstriscia pi\u00e8 di pagina 2023 5\u2033 _builder_version=\u201d4.21.0\u2033 _module_preset=\u201ddefault\u201d custom_margin=\u201d35px||||false|false\u201d global_colors_info=\u201d{}\u201d][\/et_pb_image][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","protected":false},"excerpt":{"rendered":"<p>Italiano: [et_pb_section fb_built=\u201d1\u2033 fullwidth=\u201don\u201d disabled_on=\u201doff|off|off\u201d _builder_version=\u201d4.16\u2033 border_width_bottom=\u201d55px\u201d border_color_bottom=\u201d#29327a\u201d locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_fullwidth_header _builder_version=\u201d4.16\u2033 title_font=\u201d||||||||\u201d Italiano: title_font_size=\u201d55\u2033 background_color=\u201d#29327a\u201d background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2020\/12\/Jes.jpg\u201d background_position=\u201dcenter_left\u201d custom_padding=\u201d11.5vw||11.5vw||true\u201d custom_padding_tablet=\u201d\u201d custom_padding_phone=\u201d|56px||\u201d custom_padding_last_edited=\u201don|desktop\u201d title_font_size_tablet=\u201d45px\u201d title_font_size_phone=\u201d40px\u201d title_font_size_last_edited=\u201don|phone\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dbackground-position: center 18% !important;\u201d global_colors_info=\u201d{}\u201d] Database medico [\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 specialty=\u201don\u201d padding_left_1=\u201d35px\u201d padding_left_2=\u201d35px\u201d padding_2_tablet=\u201d|||0px\u201d padding_2_phone=\u201d|||0px\u201d padding_2_last_edited=\u201don|desktop\u201d module_class_1=\u201dsidebar-secondary-nav\u201d module_class=\u201dhandprint-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d parallax=\u201don\u201d parallax_method=\u201doff\u201d inner_width=\u201d100%\u201d inner_max_width=\u201d100%\u201d custom_padding=\u201d0|0px|54px|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d10px\u201d border_color_top=\u201d#8fd2ed\u201d use_custom_width=\u201don\u201d width_unit=\u201doff\u201d custom_width_percent=\u201d100%\u201d [\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"\t\t\t\t[vc_row][vc_column][vc_custom_heading text=\"Medical Database\" font_container=\"tag:h1|text_align:center\" use_theme_fonts=\"yes\"][vc_column_text]<strong>What is the International Medical and Research Database?<\/strong>\r\n\r\nWe collect the medical records for children with Progeria from all over the world. Then we look at every aspect of medical care that has been given to the children. We perform statistical analyses, and look at what treatments have worked for maintaining quality of life and what treatments have not worked. Most doctors have only seen one child with Progeria, and they are not sure what to do when the child needs things like heart medications, anesthesia, and proper physical therapy. We have the ability to give advice to the doctors and their families based on this database program.\r\n\r\nThe Progeria Research Foundation is collaborating with Brown University Center for Gerontology and Health Care Research for this wonderful project. The Brown Center has many years of experience with creating and analyzing healthcare databases.\r\n\r\nWe also use the medical records to understand more about the basis of disease in Progeria, which serves as a springboard for new research in Progeria and in the diseases of aging such as heart disease. This may lead to clues for new treatments for the children and for all of us!\r\n\r\nThere has never been a centralized childhood Progeria database from which to draw health care information. This has led to unintentional clinical maltreatment of patients, misdiagnoses and delayed diagnoses, simply because caretakers do not know which medical strategies have been successful with other Progeria children and which have not. The goal of this project is to collect the health care records for children with Progeria and develop a centralized health database for use by health care professionals, medical researchers, and families of children with Progeria.\r\n\r\n<strong>Aims of the Database<\/strong>\r\n<ul>\r\n \t<li>To describe in detail what treatment strategies have been successful, and what treatments have failed for the medical issues faced by children with HGPS. This may help the families and their doctors understand how to best care for children with Progeria.<\/li>\r\n \t<li>To provide health care recommendations to families in non-medical language about the issues that are important to the quality of life for children with HGPS.<\/li>\r\n \t<li>The database is a resource for gaining new insights into the nature of HGPS and into the nature of other diseases such as atherosclerosis, which in turn will serve to stimulate the advancement of new research projects.<\/li>\r\n<\/ul>\r\n<strong>Institutional Review Board Approvals:<\/strong>\r\n\r\nThe PRF Medical and Research Database is Institutional Review Board (IRB) approved by the Rhode Island Hospital and the Brown University Committees on the Protection of Human Subjects. Rhode Island Hospital Federal Wide Assurance FWA00001230, Study CMTT# 0152-01, Brown University Federal Wide Assurance FWA 00004460, Study CMTT# 0211991243\r\n\r\n<strong>Publications Stemming From The Progeria Research Foundation Medical and Research Database<\/strong>\r\n\r\nThe Progeria Research Foundation Medical and Research Database has contributed to the following medical publications:\r\n\r\n<strong>Clinical Care Handbook<\/strong>\r\n\r\n<em>The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.<\/em> Gordon, Leslie B., Executive Editor. Copyright 2019 by The Progeria Research Foundation. All rights reserved.\r\n\r\n<img src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/iconPDF.gif\" width=\"34\" height=\"20\" \/> <a href=\"https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/01\/Handbook-2018-PDF-One-File-v3-1.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Click here\u00a0<\/a>\u00a0to download the second edition of the Handbook in English.\r\n\r\nThe first edition of the handbook is available in Spanish and Portuguese versions. Translations of the second edition of the handbook in Spanish and Portuguese will be posted when available.\r\n\r\n<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf\" target=\"_blank\" rel=\"noopener noreferrer\"><img src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/iconPDF.gif\" width=\"34\" height=\"20\" \/><\/a>\u00a0<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Click here<\/a> to download the Handbook in Spanish.\r\n\r\n<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf\"><img src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/iconPDF.gif\" width=\"34\" height=\"20\" \/><\/a>\u00a0<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/Handbook---Portuguese.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Click here<\/a> to download the Handbook in Portuguese.\r\n\r\n<strong>Journal Articles<\/strong>\r\n\r\n<strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28756152\" target=\"_blank\" rel=\"noopener noreferrer\">Ophthalmologic\u00a0Features\u00a0of\u00a0Progeria.\r\n<\/a><\/strong>Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.\r\nAm J Ophthalmol. 2017 Jul 27. pii: S0002-9394(17)30317-3. doi: 10.1016\/j.ajo.2017.07.020. [Epub ahead of print]\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27920058\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>A\u00a0novel\u00a0somatic\u00a0mutation\u00a0achieves\u00a0partial rescue in a child with Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB.\r\nJ Med Genet. 2017 Mar;54(3):212-216. doi: 10.1136\/jmedgenet-2016-104295. Epub 2016 Dec 5.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27799555\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Cardiac\u00a0electrical\u00a0defects\u00a0in\u00a0progeroid\u00a0mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations.<\/strong>\r\n<\/a>Rivera-Torres J, Calvo CJ, Llach A, Guzm\u00e1n-Mart\u00ednez G, Caballero R, Gonz\u00e1lez-G\u00f3mez C, Jim\u00e9nez-Borreguero LJ, Guadix JA, Osorio FG, L\u00f3pez-Ot\u00edn C, Herraiz-Mart\u00ednez A, Cabello N, Vallmitjana A, Ben\u00edtez R, Gordon LB, Jalife J, P\u00e9rez-Pomares JM, Tamargo J, Delp\u00f3n E, Hove-Madsen L, Filgueiras-Rama D, Andr\u00e9s V.\r\nProc Natl Acad Sci U S A. 2016 Nov 15;113(46):E7250-E7259. Epub 2016 Oct 31.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27400896\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Clinical Trial\u00a0of the\u00a0Protein Farnesylation\u00a0Inhibitors\u00a0Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.<\/strong>\r\n<\/a>Gordon LB, Kleinman ME, Massaro J, D'Agostino RB Sr, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW.\r\nCirculation. 2016 Jul 12;134(2):114-25. doi: 10.1161\/CIRCULATIONAHA.116.022188.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26564085\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Ullrich NJ, Gordon LB.\r\nHandb Clin Neurol. 2015;132:249-64.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24795390\"><strong>Impact\u00a0of\u00a0farnesylation\u00a0inhibitors\u00a0on\u00a0survival\u00a0in hutchinson-gilford progeria syndrome.<\/strong>\r\n<\/a>Gordon LB, Massaro J, D'Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Progeria Clinical Trials Collaborative.\r\nCirculation. 2014 Jul 1;130(1):27-34. doi: 10.1161\/CIRCULATIONAHA.113.008285. Epub 2014 May 2.\r\n\r\n<strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24456199\">Initial\u00a0Cutaneous\u00a0Manifestations of Hutchinson-Gilford Progeria Syndrome.<\/a>\u00a0<\/strong>Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 2014 Jan 24: 1-7. doi: 10.1111\/pde.12284.\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23897869\"><b>Neurologic<\/b>\u00a0<b>features<\/b>\u00a0of\u00a0<b>Hutchinson-Gilford<\/b>\u00a0progeria syndrome after lonafarnib treatment.\r\n<\/a>Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. <i>Neurology<\/i>. 2013 Jul 30;81(5):427-30. doi: 10.1212\/WNL.0b013e31829d85c0. Epub 2013 Jun 28.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23179651\"><b>Imaging<\/b>\u00a0<b>characteristics<\/b>\u00a0of\u00a0<b>cerebrovascular<\/b>\u00a0<b>arteriopathy<\/b>\u00a0and\u00a0<b>stroke<\/b>\u00a0in Hutchinson-Gilford progeria syndrome.<\/a> Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.\r\n<i>AJNR Am J Neuroradiol<\/i>. 2013 May;34(5):1091-7. doi: 10.3174\/ajnr.A3341. Epub 2012 Nov 22.<\/p>\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22460337\"><b>Craniofacial abnormalities<\/b>\u00a0in\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.\r\n<\/a>Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. <i>AJNR Am J Neuroradiol<\/i>. 2012 Sep;33(8):1512-8. doi: 10.3174\/ajnr.A3088. Epub 2012 Mar 29.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23012407\"><b>Clinical trial<\/b>\u00a0of a\u00a0<b>farnesyltransferase<\/b>\u00a0<b>inhibitor<\/b>\u00a0in\u00a0<b>children<\/b>\u00a0with\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. <i>Proc Natl Acad Sci U S A<\/i>. 2012 Oct 9;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Epub 2012 Sep 24<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22083160\"><b>Mechanisms<\/b>\u00a0of\u00a0<b>premature<\/b>\u00a0<b>vascular<\/b>\u00a0<b>aging<\/b>\u00a0in\u00a0<b>children<\/b>\u00a0with\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, Schwartzman A, Giobbie-Hurder A, Neuberg D, Gordon LB. <i>Hypertension<\/i>. 2012 Jan;59(1):92-7. doi: 10.1161\/HYPERTENSIONAHA.111.180919. Epub 2011 Nov 14.<\/p>\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22752073\"><strong>A\u00a0prospective study\u00a0of\u00a0radiographic\u00a0manifestations\u00a0in Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, Nazarian A, Giobbie-Hurder A, Neuberg D, Kieran MW. <i>Pediatr Radiol<\/i>. 2012 Sep;42(9):1089-98. doi: 10.1007\/s00247-012-2423-1. Epub 2012 Jul 1.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21980471\"><b>Low<\/b>\u00a0and\u00a0<b>high<\/b>\u00a0<b>expressing<\/b>\u00a0<b>alleles<\/b>\u00a0of the LMNA gene: implications for laminopathy disease development.<\/a> Rodr\u00edguez S, Eriksson M. <i>PLoS One<\/i>. 2011;6(9):e25472. doi: 10.1371\/journal.pone.0025472. Epub 2011 Sep 29.\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21445982\"><b>\r\nHutchinson-Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0is a\u00a0<b>skeletal<\/b>\u00a0dysplasia.<\/a> Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, Giobbie-Hurder A, Neuberg D, Cleveland R, Kleinman M, Miller DT, Kieran MW. <i>J Bone Miner Res<\/i>. 2011 Jul;26(7):1670-9. doi: 10.1002\/jbmr.392.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20798379\"><b>Cardiovascular pathology<\/b>\u00a0in\u00a0<b>Hutchinson<\/b>-Gilford progeria: correlation with the vascular<b>pathology<\/b>\u00a0of aging.<\/a> Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. <i>Arterioscler Thromb Vasc Biol<\/i>. 2010 Nov;30(11):2301-9. doi: 10.1161\/ATVBAHA.110.209460. Epub 2010 Aug 26.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19236595\"><b>Hutchinson-Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0<b>syndrome<\/b>:\u00a0<b>oral<\/b>\u00a0and craniofacial phenotypes.<\/a> Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. <i>Oral<\/i><i>\u00a0<\/i><i>Dis<\/i>. 2009 Apr;15(3):187-95. doi: 10.1111\/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18334552\"><b>Targeted<\/b>\u00a0<b>transgenic<\/b>\u00a0<b>expression<\/b>\u00a0of the\u00a0<b>mutation<\/b>\u00a0<b>causing<\/b>\u00a0Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease.<\/a> Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. <i>J Cell Sci<\/i>. 2008 Apr 1;121(Pt 7):969-78. doi: 10.1242\/jcs.022913. Epub 2008 Mar 11.<\/p>\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18708427\"><b>Reversible<\/b>\u00a0<b>phenotype<\/b>\u00a0in a\u00a0<b>mouse<\/b>\u00a0model of Hutchinson-Gilford progeria syndrome.\r\n<\/a>Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. <i>J Med Genet<\/i>. 2008 Dec;45(12):794-801. doi: 10.1136\/jmg.2008.060772. Epub 2008 Aug 15.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18256394\"><b>Phenotype<\/b>\u00a0and\u00a0<b>course<\/b>\u00a0of\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. <i>N Engl J Med<\/i>. 2008 Feb 7;358(6):592-604. doi: 10.1056\/NEJMoa0706898.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908771\"><b>New<\/b>\u00a0<b>approaches<\/b>\u00a0to\u00a0<b>progeria<\/b>.<\/a> Kieran MW, Gordon L, Kleinman M. Pediatrics. 2007 Oct;120(4):834-41. Review. Erratum in: <i>Pediatrics<\/i>. 2007 Dec;120(6):1405.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908770\"><b>Disease progression<\/b>\u00a0in\u00a0<b>Hutchinson-Gilford<\/b>\u00a0progeria syndrome: impact on growth and development.<\/a> Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. <i>Pediatrics<\/i>. 2007 Oct;120(4):824-33.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15756215\"><b>Reduced<\/b>\u00a0<b>adiponectin<\/b>\u00a0and\u00a0<b>HDL cholesterol<\/b>\u00a0without\u00a0<b>elevated<\/b>\u00a0<b>C-reactive protein<\/b>: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome.<\/a> Gordon LB, Harten IA, Patti ME, Lichtenstein AH. <i>J Pediatr<\/i>. 2005 Mar;146(3):336-41.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16129833\"><b>Inhibiting<\/b>\u00a0<b>farnesylation<\/b>\u00a0of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford\u00a0<b>progeria<\/b>\u00a0syndrome.<\/a> Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. <i>Proc Natl Acad Sci U S A<\/i>. 2005 Sep 6;102(36):12879-84. Epub 2005 Aug 29<\/p>\r\n<p class=\"details\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15184648\"><b>Accumulation<\/b>\u00a0of\u00a0<b>mutant<\/b>\u00a0<b>lamin A<\/b>\u00a0<b>causes<\/b>\u00a0progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.<\/a> Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. <i>Proc Natl Acad Sci U S A<\/i>. 2004 Jun 15;101(24):8963-8. Epub 2004 Jun 7.<\/p>\r\n<strong>Books and Documents<\/strong>\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">Hutchinson-Gilford Progeria Syndrome.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.\r\n2003 Dec 12 [updated 2011 Jan 06].\r\n\r\nThe Premature Aging Syndrome Hutchinson-Gilford Progeria: Insights Into Normal Aging. Gordon, Leslie. Chapter in the 7th edition of <em>Brocklehurst\u2019s Textbook of Geriatric Medicine and Gerontology<\/em>. Copyright: 2010.\r\n\r\n<em>LMNA<\/em> and the Hutchinson-Gilford Progeria Syndrome and Associated Laminopathies. Gordon LB, Brown WT, Rothman FG. \u00a0In C. J. Epstein, R. P. Erickson, A. Wynshaw-Boris (Eds.)<em> Inborn Errors of Development: The molecular basis of clinical disorders of morphogenesis<\/em> (2<sup>nd<\/sup> ed.). New York, NY: Oxford University Press. 2008 139: 1219-1229.[\/vc_column_text][vc_column_text]Sam passed away on January 10, 2014, leaving a legacy of inspiration that now drives PRF and its supporters to continue the quest for a cure, with more determination than ever. <a href=\"https:\/\/www.progeriaresearch.org\/sam-berns-102396-0110141.html\">Click here<\/a> to learn more about this remarkable young man.[\/vc_column_text][vc_column_text]Together with caring, dedicated board members and other generous volunteers, The Progeria Research Foundation was created to raise awareness, educate and help the families, their doctors, researchers and the general public about Hutchinson-Gilford Progeria Syndrome. In addition, PRF funds medical research and runs research-related programs specifically aimed at finding the cause*, treatments, and cure for this syndrome.[\/vc_column_text][vc_column_text]Since its inception, PRF has benefited from the leadership of Attorney Audrey Gordon, Sam's aunt, who serves as the organization's President and Executive Director.[\/vc_column_text][vc_column_text]<strong>Did you know?<\/strong>\r\n\r\nWith the exception of our staff, everyone involved with PRF is a volunteer! Our Board of Directors, Clerk, Treasurer, committee members, translators, fund-raisers, etc. all devote their time, energy and talents to furthering our mission without pay. As a result, our administrative costs are very low. This leaves more money to devote to medical research and raising public awareness, which ultimately lead to finding a cure for Progeria.[\/vc_column_text][vc_column_text css=\".vc_custom_1508790933490{background-color: #ffffff !important;}\"]\r\n<p class=\"\">Leslie B. Gordon, MD, PhD, is PRF's Medical Director. She is also the Principal Investigator of PRF's research-related programs: The PRF International Registry, Cell & Tissue Bank, Medical & Research Database, and Diagnostics Testing Program, and co-author on the historic Progeria gene finding and treatment discovery*.<\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1488054553154{background-color: #ffffff !important;}\"]\r\n<p class=\"\">* Thanks to PRF's efforts, in April 2003 PRF and the National Institutes of Health announced that <a href=\"https:\/\/www.progeriaresearch.org\/identification_of_gene_gives_hope_to_children_with_progeria.html\">the cause of Progeria, a mutation in the LMNA gene, was found<\/a>, and in September 2012, <a href=\"https:\/\/www.progeriaresearch.org\/first-ever-progeria-treatment.html\">the first-ever treatment was discovered.<\/a><\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1488054565202{background-color: #ffffff !important;}\"]There is much work to be done and little resources with which to do so. We cannot do it alone. With your support, the cure will be discovered for these wonderful children.[\/vc_column_text][vc_column_text css=\".vc_custom_1488054579010{background-color: #ffffff !important;}\"]Together, we <em>WILL<\/em> find the cure.[\/vc_column_text][\/vc_column][\/vc_row]\t\t","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-788","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Database | The Progeria Research Foundation<\/title>\n<meta name=\"description\" content=\"As part of our continued efforts in finding the cure, PRF collects the medical records for children with Progeria from all over the world.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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