{"id":7561,"date":"2026-01-06T19:25:40","date_gmt":"2026-01-06T19:25:40","guid":{"rendered":"https:\/\/cureclcn4.org\/rete-di-ricerca-clcn4\/"},"modified":"2026-01-06T19:25:44","modified_gmt":"2026-01-06T19:25:44","slug":"rete-di-ricerca-clcn4","status":"publish","type":"page","link":"https:\/\/cureclcn4.org\/it\/rete-di-ricerca-clcn4\/","title":{"rendered":"Rete di ricerca CLCN4"},"content":{"rendered":"

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Incontra la forza trainante della nostra missione: ricercatori e medici di tutto il mondo che lavorano instancabilmente per svelare le complessit\u00e0 delle condizioni legate alla CLCN4<\/em>. Benvenuto nel cuore della nostra ricerca. <\/span><\/h1>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/12\/Screenshot-2023-12-05-at-13.13.34.png” title_text=”Screenshot 2023-12-05 alle 13.13.34″ _builder_version=”4.23.1″ _module_preset=”default” max_width=”72%” module_alignment=”center” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”3_4,1_4″ custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”3_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb title=”Dr. Vera Kalscheuer (Istituto Max Planck per la Genetica Molecolare, Germania)” content_max_width=”800px” _builder_version=”4.23.1″ header_font=”|700||on|||||” header_font_size=”15px” header_line_height=”2em” body_font_size=”16px” body_line_height=”2em” width=”100%” global_colors_info=”{}”]<\/p>\n

Il lavoro di Vera si concentra sull’identificazione di nuovi geni legati alle disabilit\u00e0 del neurosviluppo e sulla caratterizzazione molecolare e funzionale di geni e proteine selezionati per comprendere meglio i meccanismi molecolari e patologici sottostanti. Grazie alle sue ricerche, ha scoperto e contribuito all’identificazione di numerosi geni legati a varie forme di disabilit\u00e0 del neurosviluppo, tra cui il CLCN4<\/em>, stabilendo cos\u00ec una diagnosi molecolare per i pazienti e le loro famiglie. Per comprendere meglio i disturbi legati al CLCN4<\/em>, insieme alla dottoressa Emma Palmer e al dottor Michel Pusch, ha condotto diversi studi sull’impatto genetico, clinico e funzionale delle varianti del CLCN4<\/em> recentemente identificate. Per saperne di pi\u00f9 sul lavoro di Vera, clicca qui<\/a>. <\/span><\/p>\n

[\/et_pb_blurb][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Vera_headshot-modified.png” title_text=”Vera_headshot-modificata” _builder_version=”4.22.2″ _module_preset=”default” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”3_4,1_4″ custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”3_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb title=”Dr. Michael Pusch (Istituto di Biofisica, Italia)” content_max_width=”800px” _builder_version=”4.23.1″ header_font=”|700||on|||||” header_font_size=”15px” header_line_height=”2em” body_font_size=”16px” body_line_height=”2em” width=”100%” global_colors_info=”{}”]<\/p>\n

Il mio gruppo di ricerca ha una lunga esperienza nella caratterizzazione biofisica dei canali ionici e dei trasportatori, con particolare attenzione ai canali anionici, utilizzando tecniche elettrofisiologiche e ottiche ad alta risoluzione e l’espressione in oociti di Xenopus e linee cellulari di mammifero. Il laboratorio esegue anche una mutagenesi sito-diretta per introdurre mutazioni nei costrutti di espressione. Siamo stati coinvolti nella scoperta di nuovi meccanismi molecolari alla base di disturbi dello sviluppo neurologico e neurodegenerativi causati da varianti nei geni che codificano gli scambiatori endolisiosomiali di cloruro\/protone ClC-3, ClC-4 e ClC-6. Stiamo continuando a caratterizzare funzionalmente le varianti dei geni CLC associate alle malattie, con particolare attenzione a ClC-4 e alla sua interazione con ClC-3, in una proficua collaborazione con i dottori Vera Kalscheuer, Emma Palmer e Raul Guzman. Per saperne di pi\u00f9 sul lavoro di Michael, clicca qui<\/a>.<\/span> <\/p>\n

[\/et_pb_blurb][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Michael-modified-modified.png” title_text=”Michael-modificato-modificato” _builder_version=”4.22.2″ _module_preset=”default” max_width=”100%” module_alignment=”center” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”3_4,1_4″ custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”3_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb title=”Dott.ssa Elizabeth Emma Palmer (Sydney Children's Hospital Network e UNSW, AUSTRALIA)” content_max_width=”800px” _builder_version=”4.23.1″ header_font=”|700||on|||||” header_font_size=”15px” header_line_height=”2em” body_font_size=”16px” body_line_height=”2em” global_colors_info=”{}”]<\/p>\n

Emma \u00e8 docente senior di clinica presso l’Universit\u00e0 del Nuovo Galles del Sud, in Australia, e ha ottenuto una borsa di studio (Investigator Grant) dal NHMRC (National Health and Medical Research Council). Il suo lavoro di genetista clinico, che assiste famiglie con malattie genetiche rare presso il Sydney Children’s Hospital, \u00e8 alla base della sua ricerca, che mira a migliorare il percorso del paziente per i 2 milioni di australiani e i 300 milioni di persone nel mondo affette da una malattia rara in modo equo e rispettoso. Emma ha incontrato per la prima volta persone affette da patologie legate alla CLCN4 oltre 10 anni fa, quando ha iniziato a lavorare come consulente di genetica clinica. Da allora \u00e8 stato un onore conoscere molte altre persone affette da questa patologia e le loro famiglie grazie al suo lavoro clinico, e di entrare in contatto con oltre 100 famiglie e\/o i loro medici a livello globale. La ricerca di Emma si \u00e8 concentrata sul tentativo di comprendere la gamma di modi in cui le alterazioni del CLCN4<\/em> possono avere un impatto sulla salute e sull’apprendimento delle persone di tutte le et\u00e0, se questo cambia nel tempo e come questa conoscenza possa essere tradotta in linee guida di gestione e in migliori cure, terapie e supporto incentrati sulla persona. Il suo obiettivo \u00e8 quello di contribuire a co-progettare gli strumenti e le risorse per un modello di assistenza ottimale: in modo che ogni persona affetta da questa patologia possa vivere la sua vita pi\u00f9 felice e soddisfacente. <\/span>Per saperne di pi\u00f9 su Emma e sulle sue ricerche, puoi visitare i suoi siti web: https:\/\/research.unsw.edu.au\/people\/dr-elizabeth-emma-palmer<\/a><\/span> e https:\/\/www.geneequal.com\/<\/a><\/span> Per sapernedi pi\u00f9 sul lavoro di Emma, clicca qui<\/a>.<\/span><\/p>\n

[\/et_pb_blurb][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Emma_headshot-modified.png” title_text=”Emma_headshot-modificato” _builder_version=”4.22.2″ _module_preset=”default” width=”100%” module_alignment=”center” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”3_4,1_4″ custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”3_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb title=”Dr. Raul Guzman (Forschungszentrum J\u00fclich, Germania)” content_max_width=”800px” _builder_version=”4.23.1″ header_font=”|700||on|||||” header_font_size=”15px” header_line_height=”2em” body_font_size=”16px” body_line_height=”2em” global_colors_info=”{}”]<\/p>\n

Il nostro obiettivo \u00e8 comprendere i meccanismi fisiologici e fisiopatologici di ClC-3 e ClC-4 e le neuropatologie associate a CLCN3\/4<\/em> causate dalle loro varianti mutanti. Utilizziamo la tecnologia dei transgeni (modelli di topi geneticamente modificati, shRNA knockdown, trasduzione lentivirale e AAV9), l’elettrofisiologia patch-clamp, la ricostruzione morfologica 3D, l’immunoistochimica, la biologia molecolare e la microscopia confocale per comprendere la funzione cellulare e molecolare di ClC-3 e ClC-4 nella salute e nella malattia dei neuroni. Esaminiamo le propriet\u00e0 elettriche e morfologiche dei neuroni dell’ippocampo e del talamo da fette cerebrali acute o organotipiche di topi Clcn3-\/-<\/em>, Clcn4-\/-<\/em> e Clcn4<\/em> knock-in per identificare l’origine della disfunzione neuronale e il percorso molecolare. Il nostro obiettivo finale \u00e8 quello di individuare potenziali strategie farmacologiche per il trattamento dei disturbi legati a<\/em> Clcn3<\/em> e Clcn4<\/em>. Utilizziamo anche l’espressione eterologa su cellule immortalizzate, combinata con l’elettrofisiologia patch-clamp, la microscopia confocale e la biochimica delle proteine per valutare le propriet\u00e0 funzionali delle varianti di<\/em> CLCN3<\/em> e CLCN4<\/em>. Recentemente, il nostro gruppo ha chiarito il ruolo di questi trasportatori nel processo di accumulo vescicolare delle monoammine e nell’esocitosi, ha dimostrato l’implicazione funzionale degli scambiatori Cl-\/H+ nella regolazione delle propriet\u00e0 di elettrogeno\/eccitabilit\u00e0 dei neuroni sensoriali e ha caratterizzato funzionalmente diversi mutanti di CLCN4 <\/em>. In stretta collaborazione con i dottori Tobias Stauber, Michael Push, Jing Peng e Kenneth Myers, continuiamo a valutare le varianti<\/em> CLCN3<\/em> e CLCN4<\/em> associate alla malattia. Per saperne di pi\u00f9 sul lavoro di Raul, clicca qui<\/a>. <\/span><\/p>\n

[\/et_pb_blurb][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/cureclcn4.org\/wp-content\/uploads\/2023\/10\/Raul_Guzman-modified-modified.png” title_text=”Raul_Guzman-modificato-modificato” _builder_version=”4.22.2″ _module_preset=”default” width=”100%” module_alignment=”center” global_colors_info=”{}”][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”3_4,1_4″ custom_padding_last_edited=”on|phone” _builder_version=”4.16″ background_color=”#ffffff” max_width=”1200px” custom_padding=”29px|80px|28px|80px|false|false” custom_padding_tablet=”|80px||80px|false|true” custom_padding_phone=”40px|30px||30px||true” box_shadow_style=”preset3″ box_shadow_vertical=”40px” box_shadow_blur=”100px” box_shadow_spread=”-30px” box_shadow_color=”rgba(0,0,0,0.22)” use_custom_width=”on” custom_width_px=”1200px” global_colors_info=”{}”][et_pb_column type=”3_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_blurb title=”PROF. ANGELA MORGAn (Murdoch Children's Research Institute, Australia)” content_max_width=”800px” _builder_version=”4.23.1″ header_font=”|700||on|||||” header_font_size=”15px” header_line_height=”2em” body_font_size=”16px” body_line_height=”2em” global_colors_info=”{}”]<\/p>\n

La Prof.ssa Angela Morgan \u00e8 una Elizabeth Blackburn Fellow del National Health and Medical Research Council (NHMRC) e dirige il gruppo Speech and Language presso il Murdoch Children’s Research Institute. Angela \u00e8 anche Dame Kate Campbell Professorial Fellow presso l’Universit\u00e0 di Melbourne e direttore della clinica di Genomica del Linguaggio presso il Royal Children’s Hospital di Melbourne, Australia. La sua carriera si \u00e8 concentrata sulla comprensione delle cause, dei predittori, della prognosi e delle terapie per i disturbi gravi e persistenti del linguaggio e della parola nei bambini. Pi\u00f9 di recente, il team di Angela del Centro di Eccellenza di Ricerca (CRE) NHMRC per il linguaggio e la parola ha identificato oltre 30 geni associati all’aprassia infantile. Il lavoro del suo team si traduce direttamente in linee guida internazionali per la gestione clinica dei bambini affetti da queste rare condizioni genetiche. Il team di Angela \u00e8 lieto di collaborare con la comunit\u00e0 CLCN4<\/em> per comprendere meglio la diagnosi, la prognosi e il trattamento del linguaggio nelle condizioni legate alla CLCN4<\/em>. La signora Alecka Garrett \u00e8 una logopedista esperta del team CRE e si diverte a lavorare direttamente con le famiglie con il supporto di Angela e del team. Per saperne di pi\u00f9 sul lavoro di Angela clicca qui<\/a>. Per maggiori informazioni sullo studio CLCN4<\/em> Speech & Language clicca qui<\/a>. <\/span><\/p>\n

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Contattate. Partecipa.<\/h2>\n

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Incontra la forza trainante della nostra missione: ricercatori e medici di tutto il mondo che lavorano instancabilmente per svelare le complessit\u00e0 delle condizioni legate alla CLCN4. Benvenuto nel cuore della nostra ricerca. <\/p>\n","protected":false},"author":2,"featured_media":5056,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-7561","page","type-page","status-publish","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/7561","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/comments?post=7561"}],"version-history":[{"count":6,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/7561\/revisions"}],"predecessor-version":[{"id":7571,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/pages\/7561\/revisions\/7571"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/media\/5056"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/it\/wp-json\/wp\/v2\/media?parent=7561"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}