[et_pb_section fb_built=”1″ custom_padding_last_edited=”on|tablet” next_background_color=”#edeffa” admin_label=”Hero” _builder_version=”4.16.0″ use_background_color_gradient=”on” background_color_gradient_type=”circular” background_color_gradient_direction_radial=”top right” background_color_gradient_stops=”rgba(255,255,255,0) 20%|#26a9e4 99%” background_color_gradient_overlays_image=”on” background_color_gradient_start=”rgba(255,255,255,0)” background_color_gradient_start_position=”20%” background_color_gradient_end=”#26a9e4″ background_image=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/banner-general-1-scaled.jpg” custom_padding=”47px|0px|87px|0px|false|false” custom_padding_tablet=”50px||50px||true” custom_padding_phone=”|||” bottom_divider_style=”asymmetric” bottom_divider_height=”50px” bottom_divider_flip=”horizontal” bottom_divider_height_tablet=”90px” bottom_divider_height_phone=”80px” global_colors_info=”{}”][et_pb_row column_structure=”2_3,1_3″ _builder_version=”4.16″ custom_width_px=”1280px” global_colors_info=”{}”][et_pb_column type=”2_3″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.16″ text_font=”Montserrat||||||||” text_text_color=”rgba(255,255,255,0.7)” text_font_size=”20px” text_line_height=”1.8em” header_font=”Montserrat|700|||||||” header_font_size=”44px” header_line_height=”1.4em” header_6_font=”Montserrat|600||on|||||” header_6_text_color=”rgba(255,255,255,0.7)” header_6_font_size=”16px” header_6_letter_spacing=”2px” header_6_line_height=”1.5em” background_layout=”dark” max_width=”780px” min_height=”39px” text_font_size_tablet=”” text_font_size_phone=”15px” text_font_size_last_edited=”on|phone” header_font_size_tablet=”” header_font_size_phone=”28px” header_font_size_last_edited=”on|phone” global_colors_info=”{}”]<\/p>\n
[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_3″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ admin_label=”first section” module_id=”strategie” _builder_version=”4.16″ background_color=”#edeffa” background_color_gradient_direction=”0deg” min_height=”417px” custom_padding=”|||” global_colors_info=”{}”][et_pb_row column_structure=”2_3,1_3″ module_id=”strategy” _builder_version=”4.18.1″ custom_width_px=”1280px” global_colors_info=”{}”][et_pb_column type=”2_3″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.16″ text_font=”Montserrat||||||||” text_text_color=”rgba(255,255,255,0.7)” text_font_size=”20px” text_line_height=”1.8em” header_font=”Montserrat|700|||||||” header_font_size=”44px” header_line_height=”1.4em” header_6_font=”Montserrat|600||on|||||” header_6_text_color=”rgba(255,255,255,0.7)” header_6_font_size=”16px” header_6_letter_spacing=”2px” header_6_line_height=”1.5em” max_width=”780px” min_height=”39px” text_font_size_tablet=”” text_font_size_phone=”15px” text_font_size_last_edited=”on|phone” header_font_size_tablet=”” header_font_size_phone=”28px” header_font_size_last_edited=”on|phone” global_colors_info=”{}”]<\/p>\n
[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_3″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”1_2,1_2″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n
En 2006, la Fondation a \u00e9t\u00e9 cr\u00e9\u00e9e et a financ\u00e9 la premi\u00e8re recherche sur l’ARSACS depuis l\u2019identification du g\u00e8ne en 2000. Il \u00e9tait crucial d\u2019entamer des recherches afin de d\u00e9couvrir un traitement pour ataxie r\u00e9cessive spastique autosomique de Charlevoix-Saguenay (ARSACS).<\/p>\n
Depuis sa cr\u00e9ation, la Fondation a financ\u00e9 plusieurs projets de recherche li\u00e9s \u00e0 ce trouble neurologique. La Fondation est un organisme de bienfaisance sans employ\u00e9s et est enti\u00e8rement financ\u00e9 par des dons priv\u00e9s et b\u00e9n\u00e9voles qui soutiennent la cause. Les frais d\u2019administration sont inf\u00e9rieurs \u00e0 1% des fonds recueillis ce qui permet de consacrer presque la totalit\u00e9 des fonds enti\u00e8rement \u00e0 la recherche.<\/p>\n<\/div>\n
[\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n
Le principal objectif de la Fondation de l\u2019Ataxie Charlevoix-Saguenay est de d\u00e9velopper un traitement pour l\u2019ARSACS. Chaque ann\u00e9e, la Fondation finance plusieurs projets de recherche au Canada et \u00e0 l\u2019\u00e9tranger. Les efforts de la Fondation se concentrent actuellement dans trois grands domaines de recherche:<\/p>\n<\/div>\n
[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=”1_2,1_2″ module_id=”research-grants” _builder_version=”4.24.1″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n
Afin d\u2019encourager et d\u2019acc\u00e9l\u00e9rer le d\u00e9veloppement d\u2019un traitement pour l\u2019ARSACS, la Fondation accorde des subventions et des opportunit\u00e9s \u00e0 des chercheurs.<\/p>\n
Cette ann\u00e9e, l\u2019appel d\u2019offres de la Fondation de l\u2019Ataxie Charlevoix-Saguenay est conjointement soutenu par le \u201cRichardson Research Fund\u201d pour financer la recherche sur l\u2019ARSACS.<\/p>\n
Dans le cadre de cette offre de financement, la Fondation de l\u2019Ataxie Charlevoix-Saguenay en collaboration avec le \u201cRichardson Trust Fund\u201d poursuit son financement de projets pouvant atteindre jusqu\u2019\u00e0 100 000 $ CAN par projet et jusqu\u2019\u00e0 25 000 $ CAN par projet pour un financement de d\u00e9marrage (Seed Grant).<\/p>\n
Les deux types de subventions sont d’une dur\u00e9e de 12 mois avec possibilit\u00e9 de renouvellement. Pour plus d’information et postuler :<\/span> Appel d’offres<\/a> et Formulaire de candidature<\/a><\/p>\n<\/div>\n [\/et_pb_text][\/et_pb_column][et_pb_column type=”1_2″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n Toutes les demandes de subventions de recherche sont \u00e9valu\u00e9es par le comit\u00e9 consultatif scientifique de la Fondation Ataxie de Charlevoix-Saguenay selon des crit\u00e8res pr\u00e9cis. <\/span><\/p>\n<\/div>\n [\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ prev_background_color=”#edeffa” next_background_color=”#26a9e4″ admin_label=”current projects” module_id=”projects-en-cours” _builder_version=”4.16.0″ background_color=”#0c4a7c” module_alignment=”right” custom_padding=”100px|0px|100px|0px|true|false” top_divider_style=”asymmetric” top_divider_height=”50px” top_divider_flip=”horizontal” bottom_divider_style=”asymmetric” bottom_divider_flip=”horizontal” global_colors_info=”{}”][et_pb_row _builder_version=”4.16″ global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.27.4″ text_font=”Montserrat||||||||” text_font_size=”20px” text_line_height=”1.8em” link_font=”Montserrat|700|||||||” link_text_color=”#fa546d” link_font_size=”22px” link_line_height=”1.5em” header_font=”||||||||” header_font_size=”40px” header_2_font=”Montserrat|700|||||||” header_2_font_size=”40px” header_2_line_height=”1.4em” header_6_font=”Montserrat|600||on|||||” header_6_text_color=”#fa546d” header_6_font_size=”16px” header_6_letter_spacing=”2px” header_6_line_height=”1.5em” background_layout=”dark” max_width=”780px” max_width_last_edited=”off|desktop” module_alignment=”left” min_height=”39px” custom_margin=”|14px||||” custom_padding=”|0px||||” header_2_font_size_tablet=”” header_2_font_size_phone=”24px” header_2_font_size_last_edited=”on|phone” locked=”off” global_colors_info=”{}”]<\/p>\n <\/p>\n (Certaines descriptions disponibles en version anglaise seulement)<\/p>\n <\/p>\n [\/et_pb_text][et_pb_blog fullwidth=”off” posts_number=”21″ include_categories=”34″ show_more=”on” show_author=”off” _builder_version=”4.16″ _module_preset=”default” background_enable_color=”off” global_colors_info=”{}”][\/et_pb_blog][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_button button_url=”@ET-DC@eyJkeW5hbWljIjp0cnVlLCJjb250ZW50IjoicG9zdF9saW5rX3VybF9wYWdlIiwic2V0dGluZ3MiOnsicG9zdF9pZCI6IjE0NTcxIiwiZW5hYmxlX2h0bWwiOiJvZmYifX0=@” button_text=”Projets de recherche ant\u00e9rieurs” button_alignment=”center” _builder_version=”4.16″ _dynamic_attributes=”button_url” _module_preset=”default” global_colors_info=”{}”][\/et_pb_button][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ module_id=”research-project-reports” _builder_version=”4.18.1″ _module_preset=”default” background_color=”#26a9e4″ custom_padding=”||100px||false|false” bottom_divider_style=”asymmetric” bottom_divider_color=”#FFFFFF” bottom_divider_flip=”horizontal” global_colors_info=”{}”][et_pb_row _builder_version=”4.18.1″ _module_preset=”default” background_color=”#F7931E” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.16.0″ _module_preset=”default” header_2_font=”Montserrat|700|||||||” header_2_font_size=”40px” header_2_line_height=”1.4em” background_layout=”dark” global_colors_info=”{}”]<\/p>\n [\/et_pb_text][et_pb_accordion _builder_version=”4.27.6″ _module_preset=”default” global_colors_info=”{}”][et_pb_accordion_item title=”Mars 2026 – %22Le dim\u00e9thyl fumarate test\u00e9 sur un mod\u00e8le murin de l\u2019ARSACS%22 – rapport de recherche des Drs Justin Wolters et Huaxia Wang.” open=”on” _builder_version=”4.27.6″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n “Le dim\u00e9thyl fumarate test\u00e9 sur un mod\u00e8le murin de l\u2019ARSACS ”\u00a0<\/a><\/a> – rapport de recherche des Drs Justin Wolters et Huaxia<\/a> Wang.<\/a><\/p>\n (disponible en anglais seulement)<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”F\u00e9vrier 2026 – %22Developing conditional mouse models and new approaches to treating ARSACS %22 – rapport de recherche, Dr. Stefan Strack, D\u00e9partment de Neurosciences, Universit\u00e9 de Iowa Carver Coll\u00e8ge de M\u00e9dicine, Iowa, USA.” open=”off” _builder_version=”4.27.6″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n “Developing conditional mouse models and new approaches to treating ARSACS” – rapport du projet de recherche du Dr Stefan Strack. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/a><\/p>\n (disponible en anglais seulement).<\/span><\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”D\u00e9cembre 2025 – %22Approches th\u00e9rapeutiques de th\u00e9rapie g\u00e9nique pour l\u2019ARSACS : des \u00e9tudes pr\u00e9cliniques sont en cours.%22″ _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n – rapport du projet de recherche du Dr Benoit Gentil. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Septembre 2025 – %22Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS%22 – Dre Javier Santos, School of Exact and Natural Science, Buenos Aires University, Argentine” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n “Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS”<\/a> – rapport du projet de recherche du Dr Javier Santos. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juillet 2025 – %22Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay%22 – Dre Martina Crispo, Institut Pasteur de Montevideo, Uruguay.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n “Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”<\/a> rapport du projet de recherche de la Dre Martina Crispo. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mars 2024 – \u201cDiscovery of New ARSACS Modifier Genes in the Saguenay Founder Population\u201d – Dr Simon Girard, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi, Canada.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cDiscovery of New ARSACS Modifier Genes in the Saguenay Founder Population<\/span>\u201d <\/a>rapport du projet de recherche du Dr Simon Girard. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2023-2024.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”F\u00e9vrier 2025 – \u201cCharting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood\u201d – Drs Matthis Synofzik, David Mengel (University of T\u00fcbingen, Germany) and Justin Wolter (University of Wisconsin-Madison, USA).” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n Rapport du projet de recherche \u201cCharting the neurodevelopmental stage<\/span> <\/span>of ARSACS (<\/span>NeurodevARSACS<\/span>):<\/span> <\/span>A cross-species longitudinal characterization<\/span> <\/span>of the early molecular changes in the brain, CSF and blood\u201d <\/span><\/a>des Drs Justin Wolter (University o<\/span>f Wisconsin-Madison, USA)<\/span><\/span>\u00a0<\/span>, Matthis Synofzik et David Mengel (University of <\/span><\/span>T\u00fcbingen<\/span>, Germany)<\/span><\/span>. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Octobre 2024 – \u201cTargeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS\u201d – Dre F. Maltecca, Ospedale San Raffaele, Milan, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTargeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS\u201d<\/a> rapport du projet de recherche de la Dre Francesca Maltecca. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mai 2024 – \u201cIdentifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients\u201d – Dr Mohan Babu, Univesit\u00e9 de R\u00e9gina.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cIdentifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients\u201d – <\/a> rapport de la recherche du Dr Mohan Babu (Universit\u00e9 de R\u00e9gina). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2024 – \u201cTherapeutic Approaches for ARSACS\u201d – Dr Benoit Gentil et Dre Heather Durham, Univesit\u00e9 McGill ” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTherapeutic Approaches for ARSACS\u201d<\/a> \u2013 projet de recherche des Dr Benoit Gentil et Dre Heather Durham (Universit\u00e9 McGill ). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2024 – \u201cElucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS\u201d – Dre Alanna Watt et Dre Anne McKinney, Universit\u00e9 McGill ” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cElucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS<\/a>\u201d<\/em><\/strong> <\/em> <\/strong>– Rapport du projet de recherche des Dre Allana Watt et Dre Anne McKinney. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2024 – %22Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects%22 – Dr Daniele Galatolo, IRCCS Fondazione Stella Maris, Pise, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cRetinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms ofARSACS-related retinal defects\u201d <\/a><\/strong>– Projet de recherche du Dr Daniele Galatolo. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2024 – %22Towards glial-targeted therapies of ARSACS%22 – Rapport de recherche des Drs Herrera\/Fernandes\/Adams” _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTowards glial-targeted therapies of ARSACS\u201d<\/em><\/a><\/strong>rapport final de l’\u00e9quipe des Drs Herrera et Fernandes (Universit\u00e9 de Lisbonne) et Dre Adams<\/p>\n ( Universit\u00e9 Bilkent en Turquie). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Novembre 2023 – \u201cMolecular rewiring in cellular models of ARSACS \u201d – Dr Chapple, Barts and London Queen Mary\u2019s School of Medicine, Londres, GB” content_last_edited=”off|desktop” _builder_version=”4.23.1″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape du projet de recherche \u201cMolecular rewiring in cellular models of ARSACS \u201d<\/a> <\/a> – Dr Paul Chapple. <\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Ao\u00fbt 2023 – \u201cPreclinical studies in the Sacs KO mouse model of ARSACS\u201d – Dr Strack, University of Iowa, USA ” content_last_edited=”off|desktop” _builder_version=”4.22.1″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape pour le projet de recherche \u201cPreclinical studies in the Sacs KO mouse model of ARSACS\u201d<\/a> – Dr Stefan Strack et son \u00e9quipe, projet financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mai 2023 – \u201cUnravelling defective trans-synaptic signaling in ARSACS%22 – Dre Maltecca, Ospedale San Raffaele, Milan, Italie” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape pour le projet de recherche \u201cUnravelling defective trans-synaptic signaling in ARSACS\u201d<\/a> – Dre Francesca Maltecca et son \u00e9quipe, projet financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2023 – \u201cCreating an Open Science Repository of ARSACS hiPSCs%22 – Dr Nicolas Dupr\u00e9, CHU de Qu\u00e9bec-Universit\u00e9 Laval” content_last_edited=”off|desktop” _builder_version=”4.20.2″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Nicolas_dupre-_projet-_2020-2021Preliminary-report-on-the-progression-of-the-project_Final.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cCreating an Open Science Repository of ARSACS hiPSCs\u201d, <\/a>projet de recherche sous la direction du Dr Dupr\u00e9 financ\u00e9 par la Fondation en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2023 – \u201cUnraveling the role of glial cells in ARSACS Rationale%22 – Drs Herrera\/Fernandes\/Adams” content_last_edited=”off|desktop” _builder_version=”4.20.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Nicolas_dupre-_projet-_2020-2021Preliminary-report-on-the-progression-of-the-project_Final.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape du projet de recherche \u201cUnraveling the role of glial cells in ARSACS Rationale”<\/a> – Drs Federico Herrera (Universit\u00e9 de Lisbonne), Adelaide Fernandes (Universit\u00e9 de Lisbonne) et Michelle Adams ( Universit\u00e9 Bilken, Turquie). Recherche financ\u00e9e par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2023 – \u201cUnderstanding the role of Metals%22 – Dr Graham George, University of Saskatchewan. ” content_last_edited=”off|desktop” _builder_version=”4.19.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cSynchrotron Light provides the first clues that ARSACS might involve an altered metallome\u201d<\/a> selon les r\u00e9sultats de la recherche du Dr Graham George et de son \u00e9quipe. Ce projet de recherche intitul\u00e9 \u201cUnderstanding the role of Metals in ARSACS\u201d a \u00e9t\u00e9 financ\u00e9 conjointement par la Fondation et le Richardson Research Fund en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”2023 – \u201cEffect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development\u201d – Dre Valentina Naef, IRCCS Fondazione Stella Maris, Pise, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cEffect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development\u201d<\/a> raport du projet de recherche de la Dre Valentina. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juin 2022 – \u201cMolecular characterisation of sacsin deficient cells\u201d – Dr Paul Chapple, Barts and London Queen Mary\u2019s School of Medicine and Dentistry, London, UK” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport de recherche<\/a> du Dr Paul Chapple, Barts and London Queen Mary\u2019s School of Medicine and Dentistry, London UK. Le projet, financ\u00e9 par la Fondation, s’\u00e9chelonnait sur 3 ans.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juin 2022 – \u201cStructural Determination and Super Resolution Imaging of Sacsin\u201d – Dr Houry de l’Universit\u00e9 de Toronto ” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cStructural Determination and Super Resolution Imaging of Sacsin\u201d rapport de recherche<\/a> du Dr Houry de l’Universit\u00e9 de Toronto et financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2022 – \u201cDiscovery of new targets for therapeutic interventions in ARSACS disease\u201d- Rapport du laboratoire Krogan” content_last_edited=”off|desktop” _builder_version=”4.17.1″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cDiscovery of new targets for therapeutic interventions in ARSACS disease\u201d<\/a>, projet sous la direction du Dr Nevan Krogan de L’UCSF. Projet financ\u00e9 par la Fondation en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Octobre 2020 – \u201cTowards the Structural Determination of Sacsin\u201d- Dr W. Houry ” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cTowards the Structural Determination of Sacsin\u201d<\/a>, un projet de 2 ans financ\u00e9 par la Fondation. Rapport du Dr Houry pour la premi\u00e8re ann\u00e9e (2019-2020).<\/p>\n [\/et_pb_accordion_item][\/et_pb_accordion][et_pb_accordion _builder_version=”4.27.6″ _module_preset=”default” global_colors_info=”{}”][et_pb_accordion_item title=”F\u00e9vrier 2026 – %22Developing conditional mouse models and new approaches to treating ARSACS %22 – rapport de recherche, Dr. Stefan Strack, D\u00e9partment de Neurosciences, Universit\u00e9 de Iowa Carver Coll\u00e8ge de M\u00e9dicine, Iowa, USA.” open=”on” _builder_version=”4.27.6″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n \u00a0Developing conditional mouse models and new approaches to treating ARSACS – rapport du projet de recherche du Dr Stefan Strack. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/a><\/p>\n (disponible en anglais seulement).<\/span><\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”D\u00e9cembre 2025 – %22Approches th\u00e9rapeutiques de th\u00e9rapie g\u00e9nique pour l\u2019ARSACS : des \u00e9tudes pr\u00e9cliniques sont en cours.%22″ _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n – rapport du projet de recherche du Dr Benoit Gentil. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Septembre 2025 – %22Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS%22 – Dre Javier Santos, School of Exact and Natural Science, Buenos Aires University, Argentine” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n “Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS”<\/a> – rapport du projet de recherche du Dr Javier Santos. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juillet 2025 – %22Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay%22 – Dre Martina Crispo, Institut Pasteur de Montevideo, Uruguay.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n “Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”<\/a> rapport du projet de recherche de la Dre Martina Crispo. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mars 2024 – \u201cDiscovery of New ARSACS Modifier Genes in the Saguenay Founder Population\u201d – Dr Simon Girard, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi, Canada.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cDiscovery of New ARSACS Modifier Genes in the Saguenay Founder Population<\/span>\u201d <\/a>rapport du projet de recherche du Dr Simon Girard. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2023-2024.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”F\u00e9vrier 2025 – \u201cCharting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood\u201d – Drs Matthis Synofzik, David Mengel (University of T\u00fcbingen, Germany) and Justin Wolter (University of Wisconsin-Madison, USA).” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n Rapport du projet de recherche \u201cCharting the neurodevelopmental stage<\/span> <\/span>of ARSACS (<\/span>NeurodevARSACS<\/span>):<\/span> <\/span>A cross-species longitudinal characterization<\/span> <\/span>of the early molecular changes in the brain, CSF and blood\u201d <\/span><\/a>des Drs Justin Wolter (University o<\/span>f Wisconsin-Madison, USA)<\/span><\/span>\u00a0<\/span>, Matthis Synofzik et David Mengel (University of <\/span><\/span>T\u00fcbingen<\/span>, Germany)<\/span><\/span>. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Octobre 2024 – \u201cTargeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS\u201d – Dre F. Maltecca, Ospedale San Raffaele, Milan, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTargeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS\u201d<\/a> rapport du projet de recherche de la Dre Francesca Maltecca. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mai 2024 – \u201cIdentifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients\u201d – Dr Mohan Babu, Univesit\u00e9 de R\u00e9gina.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cIdentifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients\u201d – <\/a> rapport de la recherche du Dr Mohan Babu (Universit\u00e9 de R\u00e9gina). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2024 – \u201cTherapeutic Approaches for ARSACS\u201d – Dr Benoit Gentil et Dre Heather Durham, Univesit\u00e9 McGill ” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTherapeutic Approaches for ARSACS\u201d<\/a> \u2013 projet de recherche des Dr Benoit Gentil et Dre Heather Durham (Universit\u00e9 McGill ). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2024 – \u201cElucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS\u201d – Dre Alanna Watt et Dre Anne McKinney, Universit\u00e9 McGill ” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cElucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS<\/a>\u201d<\/em><\/strong> <\/em> <\/strong>– Rapport du projet de recherche des Dre Allana Watt et Dre Anne McKinney. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2024 – %22Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects%22 – Dr Daniele Galatolo, IRCCS Fondazione Stella Maris, Pise, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cRetinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms ofARSACS-related retinal defects\u201d <\/a><\/strong>– Projet de recherche du Dr Daniele Galatolo. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2024 – %22Towards glial-targeted therapies of ARSACS%22 – Rapport de recherche des Drs Herrera\/Fernandes\/Adams” _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTowards glial-targeted therapies of ARSACS\u201d<\/em><\/a><\/strong>rapport final de l’\u00e9quipe des Drs Herrera et Fernandes (Universit\u00e9 de Lisbonne) et Dre Adams<\/p>\n ( Universit\u00e9 Bilkent en Turquie). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Novembre 2023 – \u201cMolecular rewiring in cellular models of ARSACS \u201d – Dr Chapple, Barts and London Queen Mary\u2019s School of Medicine, Londres, GB” content_last_edited=”off|desktop” _builder_version=”4.23.1″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape du projet de recherche \u201cMolecular rewiring in cellular models of ARSACS \u201d<\/a> <\/a> – Dr Paul Chapple. <\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Ao\u00fbt 2023 – \u201cPreclinical studies in the Sacs KO mouse model of ARSACS\u201d – Dr Strack, University of Iowa, USA ” content_last_edited=”off|desktop” _builder_version=”4.22.1″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape pour le projet de recherche \u201cPreclinical studies in the Sacs KO mouse model of ARSACS\u201d<\/a> – Dr Stefan Strack et son \u00e9quipe, projet financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mai 2023 – \u201cUnravelling defective trans-synaptic signaling in ARSACS%22 – Dre Maltecca, Ospedale San Raffaele, Milan, Italie” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape pour le projet de recherche \u201cUnravelling defective trans-synaptic signaling in ARSACS\u201d<\/a> – Dre Francesca Maltecca et son \u00e9quipe, projet financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2023 – \u201cCreating an Open Science Repository of ARSACS hiPSCs%22 – Dr Nicolas Dupr\u00e9, CHU de Qu\u00e9bec-Universit\u00e9 Laval” content_last_edited=”off|desktop” _builder_version=”4.20.2″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Nicolas_dupre-_projet-_2020-2021Preliminary-report-on-the-progression-of-the-project_Final.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cCreating an Open Science Repository of ARSACS hiPSCs\u201d, <\/a>projet de recherche sous la direction du Dr Dupr\u00e9 financ\u00e9 par la Fondation en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2023 – \u201cUnraveling the role of glial cells in ARSACS Rationale%22 – Drs Herrera\/Fernandes\/Adams” content_last_edited=”off|desktop” _builder_version=”4.20.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Nicolas_dupre-_projet-_2020-2021Preliminary-report-on-the-progression-of-the-project_Final.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape du projet de recherche \u201cUnraveling the role of glial cells in ARSACS Rationale”<\/a> – Drs Federico Herrera (Universit\u00e9 de Lisbonne), Adelaide Fernandes (Universit\u00e9 de Lisbonne) et Michelle Adams ( Universit\u00e9 Bilken, Turquie). Recherche financ\u00e9e par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2023 – \u201cUnderstanding the role of Metals%22 – Dr Graham George, University of Saskatchewan. ” content_last_edited=”off|desktop” _builder_version=”4.19.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cSynchrotron Light provides the first clues that ARSACS might involve an altered metallome\u201d<\/a> selon les r\u00e9sultats de la recherche du Dr Graham George et de son \u00e9quipe. Ce projet de recherche intitul\u00e9 \u201cUnderstanding the role of Metals in ARSACS\u201d a \u00e9t\u00e9 financ\u00e9 conjointement par la Fondation et le Richardson Research Fund en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”2023 – \u201cEffect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development\u201d – Dre Valentina Naef, IRCCS Fondazione Stella Maris, Pise, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cEffect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development\u201d<\/a> raport du projet de recherche de la Dre Valentina. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juin 2022 – \u201cMolecular characterisation of sacsin deficient cells\u201d – Dr Paul Chapple, Barts and London Queen Mary\u2019s School of Medicine and Dentistry, London, UK” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport de recherche<\/a> du Dr Paul Chapple, Barts and London Queen Mary\u2019s School of Medicine and Dentistry, London UK. Le projet, financ\u00e9 par la Fondation, s’\u00e9chelonnait sur 3 ans.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juin 2022 – \u201cStructural Determination and Super Resolution Imaging of Sacsin\u201d – Dr Houry de l’Universit\u00e9 de Toronto ” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cStructural Determination and Super Resolution Imaging of Sacsin\u201d rapport de recherche<\/a> du Dr Houry de l’Universit\u00e9 de Toronto et financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2022 – \u201cDiscovery of new targets for therapeutic interventions in ARSACS disease\u201d- Rapport du laboratoire Krogan” content_last_edited=”off|desktop” _builder_version=”4.17.1″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cDiscovery of new targets for therapeutic interventions in ARSACS disease\u201d<\/a>, projet sous la direction du Dr Nevan Krogan de L’UCSF. Projet financ\u00e9 par la Fondation en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Octobre 2020 – \u201cTowards the Structural Determination of Sacsin\u201d- Dr W. Houry ” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cTowards the Structural Determination of Sacsin\u201d<\/a>, un projet de 2 ans financ\u00e9 par la Fondation. Rapport du Dr Houry pour la premi\u00e8re ann\u00e9e (2019-2020).<\/p>\n [\/et_pb_accordion_item][\/et_pb_accordion][et_pb_accordion _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”][et_pb_accordion_item title=”D\u00e9cembre 2025 – %22Approches th\u00e9rapeutiques de th\u00e9rapie g\u00e9nique pour l\u2019ARSACS : des \u00e9tudes pr\u00e9cliniques sont en cours.%22″ open=”on” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n – rapport du projet de recherche du Dr Benoit Gentil. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Septembre 2025 – %22Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS%22 – Dre Javier Santos, School of Exact and Natural Science, Buenos Aires University, Argentine” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n “Biophysical and functional study of Sacsin Trojan fragments as a protein complementation and phenotypic rescue strategy for ARSACS”<\/a> – rapport du projet de recherche du Dr Javier Santos. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juillet 2025 – %22Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay%22 – Dre Martina Crispo, Institut Pasteur de Montevideo, Uruguay.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n “Avatar mouse model of a new genetic variant of ARSACS detected in Uruguay”<\/a> rapport du projet de recherche de la Dre Martina Crispo. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2024-2025.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mars 2024 – \u201cDiscovery of New ARSACS Modifier Genes in the Saguenay Founder Population\u201d – Dr Simon Girard, Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi, Canada.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cDiscovery of New ARSACS Modifier Genes in the Saguenay Founder Population<\/span>\u201d <\/a>rapport du projet de recherche du Dr Simon Girard. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2023-2024.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”F\u00e9vrier 2025 – \u201cCharting the neurodevelopmental stage of ARSACS (NeurodevARSACS): A cross-species longitudinal characterization of the early molecular changes in the brain, CSF and blood\u201d – Drs Matthis Synofzik, David Mengel (University of T\u00fcbingen, Germany) and Justin Wolter (University of Wisconsin-Madison, USA).” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n Rapport du projet de recherche \u201cCharting the neurodevelopmental stage<\/span> <\/span>of ARSACS (<\/span>NeurodevARSACS<\/span>):<\/span> <\/span>A cross-species longitudinal characterization<\/span> <\/span>of the early molecular changes in the brain, CSF and blood\u201d <\/span><\/a>des Drs Justin Wolter (University o<\/span>f Wisconsin-Madison, USA)<\/span><\/span>\u00a0<\/span>, Matthis Synofzik et David Mengel (University of <\/span><\/span>T\u00fcbingen<\/span>, Germany)<\/span><\/span>. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Octobre 2024 – \u201cTargeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS\u201d – Dre F. Maltecca, Ospedale San Raffaele, Milan, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTargeting Transmembrane Ion Balance to Restore Purkinje Cell Functionality in ARSACS\u201d<\/a> rapport du projet de recherche de la Dre Francesca Maltecca. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mai 2024 – \u201cIdentifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients\u201d – Dr Mohan Babu, Univesit\u00e9 de R\u00e9gina.” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cIdentifying Clinically Relevant Compounds and their Molecular Targets Modulating the Neuronal Excitability in ARSACS Patients\u201d – <\/a> rapport de la recherche du Dr Mohan Babu (Universit\u00e9 de R\u00e9gina). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2024 – \u201cTherapeutic Approaches for ARSACS\u201d – Dr Benoit Gentil et Dre Heather Durham, Univesit\u00e9 McGill ” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTherapeutic Approaches for ARSACS\u201d<\/a> \u2013 projet de recherche des Dr Benoit Gentil et Dre Heather Durham (Universit\u00e9 McGill ). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2024 – \u201cElucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS\u201d – Dre Alanna Watt et Dre Anne McKinney, Universit\u00e9 McGill ” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cElucidating mechanisms underlying motor coordination rescue in a mouse model of ARSACS<\/a>\u201d<\/em><\/strong> <\/em> <\/strong>– Rapport du projet de recherche des Dre Allana Watt et Dre Anne McKinney. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2024 – %22Retinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms of ARSACS-related retinal defects%22 – Dr Daniele Galatolo, IRCCS Fondazione Stella Maris, Pise, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cRetinal pigment epithelium (RPE) cell system to uncover the molecular mechanisms ofARSACS-related retinal defects\u201d <\/a><\/strong>– Projet de recherche du Dr Daniele Galatolo. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2024 – %22Towards glial-targeted therapies of ARSACS%22 – Rapport de recherche des Drs Herrera\/Fernandes\/Adams” _builder_version=”4.23.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cTowards glial-targeted therapies of ARSACS\u201d<\/em><\/a><\/strong>rapport final de l’\u00e9quipe des Drs Herrera et Fernandes (Universit\u00e9 de Lisbonne) et Dre Adams<\/p>\n ( Universit\u00e9 Bilkent en Turquie). Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Novembre 2023 – \u201cMolecular rewiring in cellular models of ARSACS \u201d – Dr Chapple, Barts and London Queen Mary\u2019s School of Medicine, Londres, GB” content_last_edited=”off|desktop” _builder_version=”4.23.1″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape du projet de recherche \u201cMolecular rewiring in cellular models of ARSACS \u201d<\/a> <\/a> – Dr Paul Chapple. <\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Ao\u00fbt 2023 – \u201cPreclinical studies in the Sacs KO mouse model of ARSACS\u201d – Dr Strack, University of Iowa, USA ” content_last_edited=”off|desktop” _builder_version=”4.22.1″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape pour le projet de recherche \u201cPreclinical studies in the Sacs KO mouse model of ARSACS\u201d<\/a> – Dr Stefan Strack et son \u00e9quipe, projet financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Mai 2023 – \u201cUnravelling defective trans-synaptic signaling in ARSACS%22 – Dre Maltecca, Ospedale San Raffaele, Milan, Italie” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape pour le projet de recherche \u201cUnravelling defective trans-synaptic signaling in ARSACS\u201d<\/a> – Dre Francesca Maltecca et son \u00e9quipe, projet financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2023 – \u201cCreating an Open Science Repository of ARSACS hiPSCs%22 – Dr Nicolas Dupr\u00e9, CHU de Qu\u00e9bec-Universit\u00e9 Laval” content_last_edited=”off|desktop” _builder_version=”4.20.2″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Nicolas_dupre-_projet-_2020-2021Preliminary-report-on-the-progression-of-the-project_Final.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cCreating an Open Science Repository of ARSACS hiPSCs\u201d, <\/a>projet de recherche sous la direction du Dr Dupr\u00e9 financ\u00e9 par la Fondation en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2023 – \u201cUnraveling the role of glial cells in ARSACS Rationale%22 – Drs Herrera\/Fernandes\/Adams” content_last_edited=”off|desktop” _builder_version=”4.20.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-https:\/\/arsacs.com\/wp-content\/uploads\/2023\/04\/Nicolas_dupre-_projet-_2020-2021Preliminary-report-on-the-progression-of-the-project_Final.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport d’\u00e9tape du projet de recherche \u201cUnraveling the role of glial cells in ARSACS Rationale”<\/a> – Drs Federico Herrera (Universit\u00e9 de Lisbonne), Adelaide Fernandes (Universit\u00e9 de Lisbonne) et Michelle Adams ( Universit\u00e9 Bilken, Turquie). Recherche financ\u00e9e par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Janvier 2023 – \u201cUnderstanding the role of Metals%22 – Dr Graham George, University of Saskatchewan. ” content_last_edited=”off|desktop” _builder_version=”4.19.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cSynchrotron Light provides the first clues that ARSACS might involve an altered metallome\u201d<\/a> selon les r\u00e9sultats de la recherche du Dr Graham George et de son \u00e9quipe. Ce projet de recherche intitul\u00e9 \u201cUnderstanding the role of Metals in ARSACS\u201d a \u00e9t\u00e9 financ\u00e9 conjointement par la Fondation et le Richardson Research Fund en 2020-2021.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”2023 – \u201cEffect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development\u201d – Dre Valentina Naef, IRCCS Fondazione Stella Maris, Pise, Italie” _builder_version=”4.27.4″ _module_preset=”default” global_colors_info=”{}” open=”off”]<\/p>\n \u201cEffect of neuroprotective molecules dietary supplementation on ARSACS zebrafish model development\u201d<\/a> raport du projet de recherche de la Dre Valentina. Ce projet a \u00e9t\u00e9 financ\u00e9 par la Fondation en 2022-2023.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juin 2022 – \u201cMolecular characterisation of sacsin deficient cells\u201d – Dr Paul Chapple, Barts and London Queen Mary\u2019s School of Medicine and Dentistry, London, UK” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n Rapport de recherche<\/a> du Dr Paul Chapple, Barts and London Queen Mary\u2019s School of Medicine and Dentistry, London UK. Le projet, financ\u00e9 par la Fondation, s’\u00e9chelonnait sur 3 ans.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Juin 2022 – \u201cStructural Determination and Super Resolution Imaging of Sacsin\u201d – Dr Houry de l’Universit\u00e9 de Toronto ” content_last_edited=”off|desktop” _builder_version=”4.27.4″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\n \u201cStructural Determination and Super Resolution Imaging of Sacsin\u201d rapport de recherche<\/a> du Dr Houry de l’Universit\u00e9 de Toronto et financ\u00e9 par la Fondation en 2021-2022.<\/p>\n [\/et_pb_accordion_item][et_pb_accordion_item title=”Avril 2022 – \u201cDiscovery of new targets for therapeutic interventions in ARSACS disease\u201d- Rapport du laboratoire Krogan” content_last_edited=”off|desktop” _builder_version=”4.17.1″ _module_preset=”default” link_option_url=”https:\/\/arsacs.com\/wp-content\/uploads\/2021\/03\/Article_IScience_Fev_2021-4.pdf” link_option_url_new_window=”on” global_colors_info=”{}” content__hover_enabled=”off|desktop” open=”off”]<\/p>\nComit\u00e9 consultatif scientifique <\/span><\/h2>\n
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Projets de recherche<\/h2>\n
2025-2026<\/h2>\n
La Fondation tient \u00e0 remercier le Richardson Trust Fund pour sa g\u00e9n\u00e9reuse contribution de 150 000$ afin de financer conjointement 3 projets de recherche ARSACS.\u00a0<\/h2>\n
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Rapport des projets de recherche<\/h2>\n
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