{"id":278,"date":"2026-07-07T19:30:51","date_gmt":"2026-07-07T17:30:51","guid":{"rendered":"https:\/\/corfoundation.org\/research\/"},"modified":"2026-09-07T14:20:01","modified_gmt":"2026-09-07T12:20:01","slug":"research","status":"publish","type":"page","link":"https:\/\/corfoundation.org\/en\/research\/","title":{"rendered":"Research"},"content":{"rendered":"

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We research to find targeted treatments and gene therapies.<\/p>\n

[\/et_pb_slide][\/et_pb_fullwidth_slider][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”][et_pb_row _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”][et_pb_text _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”]<\/p>\n

Our research urgency focuses on the neuron-specific subunit of the BAF complex, encoded by the ACTL6B gene (also known as BAF53b). This complex is critical for gene expression, genome integrity, and activity-dependent neuronal growth. <\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”][et_pb_row column_structure=”1_3,1_3,1_3″ _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”1_3″ _builder_version=”4.27.7″ _module_preset=”default” global_colors_info=”{}”][et_pb_image src=”https:\/\/corfoundation.org\/wp-content\/uploads\/\/2026\/07\/adn-icon1.svg” title_text=”adn-icon1″ _builder_version=”4.27.7″ _module_preset=”default” max_width=”150px” custom_margin=”||0px||false|false” global_colors_info=”{}”][\/et_pb_image][et_pb_text _builder_version=”4.27.7″ _module_preset=”default” hover_enabled=”0″ global_colors_info=”{}” sticky_enabled=”0″]<\/p>\n

The Clinical Impact of ACTL6B<\/strong><\/p>\n

Alterations in this gene cause severe clinical phenotypes. Heterozygous de novo variants cause an intellectual developmental disorder (IDDSSAD). <\/p>\n

 <\/p>\n

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The Reality for Patients<\/strong><\/p>\n

This diagnosis translates into severe intellectual and speech disabilities, autism spectrum disorder, and severe mobility impairments.<\/p>\n

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The Scope of BAFopathies<\/strong><\/p>\n

We are also expanding our collaborative framework to related disorders caused by mutations in other subunits of the BAF complex (such as ARID1B, ARID1A, SMARCA2, among others), which share clinical phenotypes.<\/p>\n

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Collaborating with Multiple Research Centers<\/h2>\n

We are already in contact with numerous scientific institutions dedicated to the study of rare diseases. We manage the collection of information and data from families, as well as fundraising, so that these centers can advance their research. <\/p>\n

\n

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Research Centers<\/h2>\n

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We research to find targeted treatments and gene therapies.Our research urgency focuses on the neuron-specific subunit of the BAF complex, encoded by the ACTL6B gene (also known as BAF53b). This complex is critical for gene expression, genome integrity, and activity-dependent neuronal growth. The Clinical Impact of ACTL6B Alterations in this gene cause severe clinical phenotypes. 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