
{"id":122192,"date":"2024-12-05T09:17:56","date_gmt":"2024-12-05T08:17:56","guid":{"rendered":"https:\/\/ibecbarcelona.eu\/?page_id=122192"},"modified":"2026-03-24T10:37:15","modified_gmt":"2026-03-24T09:37:15","slug":"multidisciplinary-approaches-to-tackle-rare-diseases-with-personalized-medicine-diagnostics-and-therapies-net-rare","status":"publish","type":"page","link":"https:\/\/ibecbarcelona.eu\/ca\/research\/ibec-intramural-thematic-networks\/multidisciplinary-approaches-to-tackle-rare-diseases-with-personalized-medicine-diagnostics-and-therapies-net-rare\/","title":{"rendered":"Multidisciplinary approaches to tackle rare diseases with personalized medicine (diagnostics and therapies) (NET-RARE)\u00a0"},"content":{"rendered":"<div class=\"responsive-tabs\">\n<h2 class=\"tabtitle\">Description<\/h2>\n<div class=\"tabcontent\">\n\n\n\n\n<p>Rare diseases are a diverse group of disorders with low prevalence, but if we combined all patients, they would form the world\u2019s 3rd largest population. These diseases pose significant challenges for patients and healthcare providers due to their chronic, debilitating nature and limited prevalence, resulting in restricted sample availability and genetic variability. Many rare diseases lack established diagnostic methods or treatment guidelines, and existing therapies often only alleviate symptoms rather than cure the conditions.&nbsp;&nbsp;<\/p>\n\n\n\n<p>To address these issues, the Rare Disease Thematic Network promotes collaboration among IBEC groups, facilitating the sharing of advanced technologies, bioengineered models, and analytical techniques. The Network aims to streamline research and minimize variability. Additionally, through a concluding roundtable with medical experts, it seeks to bridge clinical needs and scientific methods, fostering interdisciplinary collaboration and advancing our understanding of rare disorders, ultimately leading to more effective treatments. This integrated approach is essential for improving research quality and developing effective treatments for rare disease patients&nbsp;<\/p>\n\n\n\n<p>NET-RARE counts on the participation of the following IBEC research groups:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/ibecbarcelona.eu\/bactinf\/\" target=\"_blank\" rel=\"noreferrer noopener\">Bacterial Infections: Antimicrobial Therapies<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ibecbarcelona.eu\/biosensors\/\" target=\"_blank\" rel=\"noreferrer noopener\">Biosensors for Bioengineering<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ibecbarcelona.eu\/nanoprobes\/\" target=\"_blank\" rel=\"noreferrer noopener\">Nanoprobes &amp; Nanoswitches<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ibecbarcelona.eu\/nanobioengineering\/\" target=\"_blank\" rel=\"noreferrer noopener\">Nanobioengineering<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ibecbarcelona.eu\/neurobiotechnology\/\" target=\"_blank\" rel=\"noreferrer noopener\">Molecular and Cellular Neurobiotechlogy<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/ibecbarcelona.eu\/molecular-imaging-for-precision-medicine\/\" target=\"_blank\" rel=\"noreferrer noopener\">Molecular Imaging for Precision Medicine&nbsp;&nbsp;<\/a><\/li>\n<\/ul>\n\n\n\n<h5 class=\"wp-block-heading\">Contact us:<\/h5>\n\n\n\n<p>Chiara Ninfali: cninfali@ibecbarcelona.eu&nbsp;<\/p>\n\n\n\n<h5 class=\"wp-block-heading\"><\/h5>\n\n\n\n<p><\/p>\n\n\n\n<\/div><h2 class=\"tabtitle network-members\">Network Members<\/h2>\n<div class=\"tabcontent network-members-content\">\n\n\n\n\n<p><em>The six IBEC groups in the Rare Disease Network use methods from basic to translational research, including 3D models, organ-on-chip technologies and biomarker biosensors, to study disease complexity and foster collaboration.&nbsp;<\/em>&nbsp;<\/p>\n\n\n\n<h6 class=\"wp-block-heading\"><strong>Network Coordinator<\/strong>:&nbsp;<\/h6>\n\n\n\n<div class=\"wp-block-bcb-team-grid atgb_d696193b  atgb__dcols_3 atgb__tcols_2 atgb__mcols_1\">\n<div class=\"wp-block-bcb-team-member bcb__box-shadow\"><div class=\"atgb__member_photo\"><img decoding=\"async\" width=\"300\" height=\"354\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Chiara-Ninfali_.jpg\" alt=\"\" class=\"wp-image-122202 lazyload\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Chiara-Ninfali_.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Chiara-Ninfali_-254x300.jpg 254w\" data-sizes=\"(max-width: 300px) 100vw, 300px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 300px; --smush-placeholder-aspect-ratio: 300\/354;\" \/><div class=\"afgb__social_icons always\">\n<a href=\"https:\/\/ibecbarcelona.eu\/biosensors\/\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm0 7.082c1.602 0 1.792.006 2.425.035 1.627.074 2.385.845 2.46 2.459.028.633.034.822.034 2.424s-.006 1.792-.034 2.424c-.075 1.613-.832 2.386-2.46 2.46-.633.028-.822.035-2.425.035-1.602 0-1.792-.006-2.424-.035-1.63-.075-2.385-.849-2.46-2.46-.028-.632-.035-.822-.035-2.424s.007-1.792.035-2.424c.074-1.615.832-2.386 2.46-2.46.632-.029.822-.034 2.424-.034zm0-1.082c-1.63 0-1.833.007-2.474.037-2.18.1-3.39 1.309-3.49 3.489-.029.641-.036.845-.036 2.474 0 1.63.007 1.834.036 2.474.1 2.179 1.31 3.39 3.49 3.49.641.029.844.036 2.474.036 1.63 0 1.834-.007 2.475-.036 2.176-.1 3.391-1.309 3.489-3.49.029-.64.036-.844.036-2.474 0-1.629-.007-1.833-.036-2.474-.098-2.177-1.309-3.39-3.489-3.489-.641-.03-.845-.037-2.475-.037zm0 2.919c-1.701 0-3.081 1.379-3.081 3.081s1.38 3.081 3.081 3.081 3.081-1.379 3.081-3.081c0-1.701-1.38-3.081-3.081-3.081zm0 5.081c-1.105 0-2-.895-2-2 0-1.104.895-2 2-2 1.104 0 2.001.895 2.001 2s-.897 2-2.001 2zm3.202-5.922c-.397 0-.72.322-.72.72 0 .397.322.72.72.72.398 0 .721-.322.721-.72 0-.398-.322-.72-.721-.72z\"><\/path><\/svg><\/a>\n\n\n\n<a href=\"https:\/\/scholar.google.com\/citations?hl=en&amp;user=r5w7XbkAAAAJ\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n<\/div><\/div><div class=\"atgb__member_info\"><h3 class=\"atgb__member_name\">Chiara Ninfali<\/h3><h5 class=\"atgb__member_position\"><em>Postdoctoral Researcher<\/em><\/h5><p class=\"atgb__member_bio\"> She is actively involved in developing 3D co-culture muscle models for the study of different rare muscle diseases.\u00a0<\/p><\/div><\/div>\n<\/div>\n\n\n\n<h5 class=\"wp-block-heading\"><\/h5>\n\n\n\n<p>&nbsp;&nbsp;&nbsp;&nbsp;<br><strong>Network Representatives:&nbsp;<\/strong>&nbsp;<\/p>\n\n\n\n<div class=\"wp-block-bcb-team-grid atgb_c1e0d488  atgb__dcols_3 atgb__tcols_2 atgb__mcols_1\">\n<div class=\"wp-block-bcb-team-member bcb__box-shadow\"><div class=\"atgb__member_photo\"><img decoding=\"async\" width=\"300\" height=\"339\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Picture-MI-Giannotti-1.jpg\" alt=\"\" class=\"wp-image-122218 lazyload\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Picture-MI-Giannotti-1.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Picture-MI-Giannotti-1-265x300.jpg 265w\" data-sizes=\"(max-width: 300px) 100vw, 300px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 300px; --smush-placeholder-aspect-ratio: 300\/339;\" \/><div class=\"afgb__social_icons always\">\n<a href=\"https:\/\/ibecbarcelona.eu\/nanoprobes\/\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n\n\n\n<a href=\"https:\/\/scholar.google.com\/citations?user=3X34SAIAAAAJ&amp;hl=en\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n<\/div><\/div><div class=\"atgb__member_info\"><h3 class=\"atgb__member_name\">Marina I. Giannotti<\/h3><h5 class=\"atgb__member_position\"><em>Senior Researcher<\/em><\/h5><p class=\"atgb__member_bio\">She works on finding mechanical biomarkers and treatments for lysosomal and collagen VI disorders.\u00a0\u00a0<\/p><\/div><\/div>\n\n\n\n<div class=\"wp-block-bcb-team-member bcb__box-shadow\"><div class=\"atgb__member_photo\"><img decoding=\"async\" width=\"727\" height=\"771\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/AVillasante-picture.jpg\" alt=\"\" class=\"wp-image-122199 lazyload\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/AVillasante-picture.jpg 727w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/AVillasante-picture-283x300.jpg 283w\" data-sizes=\"(max-width: 727px) 100vw, 727px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 727px; --smush-placeholder-aspect-ratio: 727\/771;\" \/><div class=\"afgb__social_icons always\">\n<a href=\"https:\/\/scholar.google.com\/citations?hl=es&amp;user=MF8pGo8AAAAJ\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n<\/div><\/div><div class=\"atgb__member_info\"><h3 class=\"atgb__member_name\">Ar\u00e1nzazu Villasante Bermejo<\/h3><p class=\"atgb__member_bio\"><em>Arantzazu Villasante works on bioengineered models for rare cancers.\u00a0<\/em><\/p><\/div><\/div>\n\n\n\n<div class=\"wp-block-bcb-team-member bcb__box-shadow\"><div class=\"atgb__member_photo\"><img decoding=\"async\" width=\"300\" height=\"387\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Pol-Picon.jpg\" alt=\"\" class=\"wp-image-122211 lazyload\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Pol-Picon.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Pol-Picon-233x300.jpg 233w\" data-sizes=\"(max-width: 300px) 100vw, 300px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 300px; --smush-placeholder-aspect-ratio: 300\/387;\" \/><div class=\"afgb__social_icons always\">\n<a href=\"https:\/\/ibecbarcelona.eu\/neurobiotechnology\/\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n\n\n\n<a href=\"https:\/\/scholar.google.com\/citations?hl=es&amp;user=jHvpDsoAAAAJ&amp;sortby=pubdate&amp;scilu=&amp;scisig=ANVigOsAAAAAZi-k1mnUqFz1gZ18QFioHALQjNM&amp;gmla=ABOlHiybrVT2QryMVY-HiaQDYu-tFjdFkJrX7aBtnGQZP7yeWZkVOoo-SQYXD6JX1Bhion-WRoZeIudVy6bq1ou_s8v3IQJ6yylavuXz3vFlV2QPdx_Jv_y_rw&amp;sciund=11691374632585512239\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n<\/div><\/div><div class=\"atgb__member_info\"><h3 class=\"atgb__member_name\">Pol Pic\u00f3n Pag\u00e8s<\/h3><h5 class=\"atgb__member_position\"><em>Postdoctoral researcher<\/em><\/h5><p class=\"atgb__member_bio\"><em>He works on rare neurodegenerative diseases\u00a0\u00a0<\/em><\/p><\/div><\/div>\n\n\n\n<div class=\"wp-block-bcb-team-member bcb__box-shadow\"><div class=\"atgb__member_photo\"><img decoding=\"async\" width=\"300\" height=\"338\" data-src=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Eduard-Torrents.jpg\" alt=\"\" class=\"wp-image-122205 lazyload\" data-srcset=\"https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Eduard-Torrents.jpg 300w, https:\/\/ibecbarcelona.eu\/wp-content\/uploads\/2024\/12\/Eduard-Torrents-266x300.jpg 266w\" data-sizes=\"(max-width: 300px) 100vw, 300px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 300px; --smush-placeholder-aspect-ratio: 300\/338;\" \/><div class=\"afgb__social_icons always\">\n<a href=\"https:\/\/ibecbarcelona.eu\/bactinf\/\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n\n\n\n<a href=\"https:\/\/scholar.google.es\/citations?user=1fZsc6oAAAAJ&amp;hl=en\" target=\"_blank\" rel=\"noreferrer noopener\" class=\"wp-block-bcb-icon\"><svg width=\"24\" height=\"24\" viewBox=\"0 0 24 24\"><path d=\"M12 2c5.514 0 10 4.486 10 10s-4.486 10-10 10-10-4.486-10-10 4.486-10 10-10zm0-2c-6.627 0-12 5.373-12 12s5.373 12 12 12 12-5.373 12-12-5.373-12-12-12zm-2 10h-2v2h2v6h3v-6h1.82l.18-2h-2v-.833c0-.478.096-.667.558-.667h1.442v-2.5h-2.404c-1.798 0-2.596.792-2.596 2.308v1.692z\"><\/path><\/svg><\/a>\n<\/div><\/div><div class=\"atgb__member_info\"><h3 class=\"atgb__member_name\">Eduard Torrents Serra<\/h3><h5 class=\"atgb__member_position\"><em>Senior Group Leader<\/em><\/h5><p class=\"atgb__member_bio\"><em>He works at finding new strategies to treat bacterial chronic infections in cystic fibrosis patients<\/em>\u00a0<\/p><\/div><\/div>\n<\/div>\n\n\n\n<h5 class=\"wp-block-heading\"><\/h5>\n\n\n\n<h5 class=\"wp-block-heading\"><\/h5>\n\n\n\n<\/div><h2 class=\"tabtitle\">Network Programme<\/h2>\n<div class=\"tabcontent\">\n\n\n\n\n<p>NET-RARE will organize 3 half-day workshops (WS) and one in-person roundtable, each focusing on key topics in rare disease research.&nbsp; Each workshop will feature a one-hour seminar led by a distinguished national or international expert, followed by 30-minute presentations from two IBEC group speakers and one local expert from outside IBEC, broadening perspectives on the theme.&nbsp;<\/p>\n\n\n\n<p>A final retreat will be held to synthesize the main concepts of the workshops, discuss the main challenges and conclusions emerged from the round table and prepare for future collaborative \u201cproof of concept\u201d projects.&nbsp;<\/p>\n\n\n\n<p>Workshops information&nbsp;<\/p>\n\n\n\n<div class=\"wp-block-gutena-accordion gutena-accordion-block gutena-accordion-block-d791ed-91 is-layout-flow wp-block-accordion-is-layout-flow\" data-single=\"false\">\n<div class=\"wp-block-gutena-accordion-panel gutena-accordion-block__panel\">\n<div class=\"wp-block-gutena-accordion-panel-title gutena-accordion-block__panel-title\"><div class=\"gutena-accordion-block__panel-title-inner\">\n<h6 class=\"wp-block-heading has-text-align-left\" style=\"margin-top:0px;margin-right:0px;margin-bottom:0px;margin-left:0px\">Workshop 1: <strong>Advancements in Personalized Therapies for Rare Diseases<\/strong>&nbsp;<\/h6>\n<div class=\"trigger-plus-minus\"><div class=\"horizontal\"><\/div><div class=\"vertical\"><\/div><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel-content gutena-accordion-block__panel-content\"><div class=\"gutena-accordion-block__panel-content-inner\">\n<p style=\"margin-top:0;margin-bottom:0\"><strong>Date and Venue<\/strong><br>Thursday 27\/02\/2025 \u00b7 09:30h \u2013 13:10h<br>Baobab room, Tower I, Floor 11, IBEC<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>In this first workshop, we will explore how various IBEC groups and external researchers are using new technologies to develop personalized therapies for rare diseases. The opening seminar features Adriana Gonzalez from IBEC\u2019s \u201cMolecular Imaging for Precision Medicine\u201d group. She will explain how the group studies myotonic dystrophy type I, a rare muscular disease, using nuclear magnetic resonance techniques. Next, Silvia Muro from IBEC\u2019s \u201cTargeted Therapeutics and Nanodevices\u201d group will present recent progress in using targeted nanotechnology to deliver drugs for treating genetic lysosomal disorders. We are also pleased to welcome Frances Platt, professor of Biochemistry and Pharmacology, Department of Pharmacology, University of Oxford (UK). Her group studies fundamental disease mechanisms in lysosomal disorders to identify novel clinical interventions strategies. They use small molecule drugs to target unique steps in the pathogenic cascade and test them as mono-therapies or in combination with other therapies. After a networking break, Belen Perez Due\u00f1as from VHIR\u2019s \u201cTherapeutics and Innovations in Neuropediatrics\u201d group will describe her team\u2019s efforts to address rare neuromuscular disorders through molecular diagnostics and personalized genetic therapies. Finally, Eduard Torrents Serra, leader of IBEC\u2019s \u201cBacterial Infections: Antimicrobial Therapies\u201d group, will talk about his research on antimicrobial treatments for cystic fibrosis.&nbsp;<\/p>\n\n\n\n<p><strong>Scheduled Program:&nbsp;<\/strong>&nbsp;<\/p>\n\n\n\n<p><strong>09.30-09.40: <\/strong>Welcome and short introduction of the workshop&nbsp;<\/p>\n\n\n\n<p><strong>09.40-10.10: <\/strong>Silvia Blanco, IBEC group \u201cMolecular Imaging for Precision Medicine\u201d&nbsp;<\/p>\n\n\n\n<p><strong>10.10-10.40: <\/strong>Silvia Muro, IBEC group \u201cTargeted therapeutics and nanodevices\u201d&nbsp;<\/p>\n\n\n\n<p><strong>10.40-11.30:<\/strong> International invited speaker: <a href=\"https:\/\/www.pharm.ox.ac.uk\/team\/frances-platt\" target=\"_blank\" rel=\"noreferrer noopener\">Frances Platt<\/a>, professor of Biochemistry and Pharmacology, Department of Pharmacology, University of Oxford (UK).&nbsp;<\/p>\n\n\n\n<p><strong>11.30-12.00: Coffee Break and Networking<\/strong>&nbsp;<\/p>\n\n\n\n<p><strong>12.00-12.30: <\/strong>National invited speaker: <a href=\"https:\/\/vhir.vallhebron.com\/es\/profesionales\/belen-perez-duenas\" target=\"_blank\" rel=\"noreferrer noopener\">Belen Perez Due\u00f1as<\/a> from the VHIR group \u201cTherapeutics and innovations in neuropediatrics\u201d.&nbsp;<\/p>\n\n\n\n<p><strong>12.30-13.00:<\/strong> Eduard Torrents Serra, IBEC group \u201cBacterial Infections: Antimicrobial Therapies\u201d&nbsp;<\/p>\n\n\n\n<p><strong>13.00-13.10: <\/strong>Remarks and Closing&nbsp;<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><strong>Plenary talks details:<\/strong><\/p>\n\n\n\n<p><strong>Dr. Bel\u00e9n P\u00e9rez Due\u00f1as,<\/strong> Clinical Scientist and Senior Consultant in Pediatric Neurology, Vall d\u2019Hebron Hospital and Research Institute.<\/p>\n\n\n\n<p><strong>Advanced Therapies and New Technologies in Rare Neurological Diseases of Childhood<\/strong><\/p>\n\n\n\n<p><a><\/a>Pediatric neurological disorders constitute the largest group of rare diseases that manifest during childhood and pose a significant challenge due to their complexity and chronic nature. Our research group addresses these conditions by developing a personalized medicine approach based on precise genetic diagnosis and the study of their molecular bases. Simultaneously, our team works on innovative projects and the development of advanced therapies, including highly complex technological interventions such as deep brain stimulation, and gene therapies. Given the rarity and complexity of these diseases, the approach integrates neuroimaging techniques, neuromuscular imaging, and data analysis to achieve high-impact, personalized treatments.<\/p>\n\n\n\n<p><em>Dr. Bel\u00e9n P\u00e9rez-Due\u00f1as trained in Pediatrics at Hospital Sant Joan de Deu, University of Barcelona. She did a post-doctoral training at the Institute of Child Health, Great Ormond Street Hospital for Sick Children (UK), and joined the Pediatric Neurology Division at Vall d\u2019Hebron Hospital in 2017. She is responsible for the Pediatric Deep Brain Stimulation Program and the national reference center for rare diseases causing Movement Disorders. She is also the research group leader of the lab \u201cTherapeutics and Innovation in Pediatric Neurology\u201d at Vall d\u2019Hebron research institute. Her research aims to improve quality of life in children affected by rare neurogenetic diseases causing neurodevelopmental disorders and motor disability. She has led several national and international projects focused on neurogenetic and neurometabolic diseases, including genomic studies to identify new genetic defects, new biomarkers, natural history studies, design and validation of new clinical rating scales. &nbsp;<\/em><\/p>\n\n\n\n<p><strong>Prof. Fran Platt, <\/strong>Head of the Department of Pharmacology, University of Oxford, UK.<\/p>\n\n\n\n<p><strong>Advances in small molecule therapies for lysosomal storage diseases<\/strong><\/p>\n\n\n\n<p>The therapeutic landscape for lysosomal storage diseases (LSDs) has expanded over the years and has been dominated by approved biologics, primarily enzyme replacement therapies. Gene therapies are also being trialled. These biologics are disease specific in nature and so do not constitute platform therapies that can be used across multiple LSDs. More recently, small molecule drugs have also reached regulatory approval and some of these drugs can be used across multiple LSDs. In this presentation I will give an overview of the therapeutic landscape then focus on Niemann-Pick disease type C (NPC), which uniquely has three approved small molecule therapies. Two of these FDA approvals occurred very recently. I will discuss how this success story now poses the challenge of how to deliver the optimal personalised therapy to NPC patients, using combination therapy to maximise clinical benefit.<\/p>\n\n\n\n<p><em>Frances M. Platt&nbsp;is Professor of Biochemistry and Pharmacology and Head of the Department of Pharmacology, University of Oxford, UK. She received her Ph.D. in Animal Physiology from the University of Bath, UK. After completing postdoctoral training at Washington University Medical School, St. Louis, she joined the faculty at the University of Oxford and was the recipient of a five-year Lister Institute Senior Research Fellowship. She and her colleagues pioneered a novel approach to treat lysosomal storage diseases that has led to the development of an approved drug (miglustat) for type 1 Gaucher disease and Niemann-Pick disease type C disease. She is an academic co-founder of the company IntraBio and her translational work has continued as the companies lead drug Aqneursa was FDA approved in 2024 for the treatment of Niemann-Pick disease type C. She was elected Fellow of the Academy of Medical Sciences in 2011 and Fellow of the Royal Society in 2021.<\/em><\/p>\n\n\n\n<p><\/p>\n\n\n\n<p style=\"margin-top:0;margin-bottom:0\"><\/p>\n<\/div><\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel gutena-accordion-block__panel\">\n<div class=\"wp-block-gutena-accordion-panel-title gutena-accordion-block__panel-title\"><div class=\"gutena-accordion-block__panel-title-inner\">\n<h6 class=\"wp-block-heading has-text-align-left\" style=\"margin-top:0px;margin-right:0px;margin-bottom:0px;margin-left:0px\">Workshop 2: <strong>Humanized Models for Studying Rare Diseases<\/strong>&nbsp;<\/h6>\n<div class=\"trigger-plus-minus\"><div class=\"horizontal\"><\/div><div class=\"vertical\"><\/div><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel-content gutena-accordion-block__panel-content\"><div class=\"gutena-accordion-block__panel-content-inner\">\n<p style=\"margin-top:0;margin-bottom:0\"><strong>Date and Venue<\/strong><br>Thursday 04\/07\/2025 \u00b7 09:30 \u2013 13:10 h<br>Baobab room, Tower I, Floor 11, IBEC<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>In this second workshop, we will explore how humanized and bioengineered models can replace 2D cultures and murine models to better understand and replicate rare disorders. The goal is to examine the latest approaches for studying rare diseases in personalized human models. The opening seminar will feature Juanma Fern\u00e1ndez from IBEC&#8217;s \u201c<em>Biosensors for Bioengineering<\/em>\u201d group. He will present a 3D model designed to study various muscular diseases, along with Organ-on-Chip (OOC) technology and a biosensor platform for detecting biomarkers of the pathology. Next, Anna Collado Gimbert from VHIR\u2019s \u201c<em>Childhood Cancer and Blood Disorders<\/em>\u201d group will introduce their new personalized model for studying rare anaemia disorders. Her team, in collaboration with IBEC, has developed a spleen-like microfluidic filtering unit to model disease progression and create a diagnostic device for prognosis and patient stratification. Following this, international speaker Francesco Saverio Tedesco, leader of the Stem Cells and Neuromuscular Regeneration Laboratory at University College London, will present his research on enhancing muscle regeneration to develop treatments for severe and incurable childhood diseases, like muscular dystrophies. His team has developed a novel human engineered muscle model for advanced in vitro modelling of muscle disorders involving extracellular matrix, including COL6-related dystrophies. After a networking break, the next talk will be given by Laura Siles from the Instituto de Microcirug\u00eda Ocular (IMO) in Barcelona. The group develops 3D retina models using induced pluripotent stem (iPS) cells and has extensive expertise in gene editing with CRISPR technology applied to patient-derived iPS cells. Finally, Marc Riu-Villanueva from IBEC\u2019s \u201cMolecular and Cellular Neurobiology\u201d group will share their research on neurodegenerative diseases.&nbsp;<\/p>\n\n\n\n<p><strong>Scheduled Program:&nbsp;<\/strong><\/p>\n\n\n\n<p>09:20 \u2013 Registration<\/p>\n\n\n\n<p>09:30 \u2013 Welcome and introduction<\/p>\n\n\n\n<p>09:40 \u2013 Juanma Fern\u00e1ndez-Costa, IBEC Group \u201cBiosensors for Bioengineering\u201d, \u201c<em>Next-Gen preclinical models: Muscle-on-Chip meets nanoplasmonic biosensors for drug evaluation in muscular dystrophies<\/em>\u201d<\/p>\n\n\n\n<p>10:10 \u2013 National invited speaker: Anna Collado Gimbert from the VHIR group \u201cChildhood Cancer and Blood disorders\u201d, \u201c<em>Deep characterization of red blood cells in sickle cell disease and other rare anemia disorders by microfluidics and machine learning algorithms<\/em>\u201d<\/p>\n\n\n\n<p>10:40 \u2013 International invited speaker: Francesco Saverio Tedesco, professor of Neuromuscular Biology and Regenerative Medicine, Department of Cell and Developmental Biology, University College London (UK), \u201c<em>Advanced in vitro modelling of neuromuscular diseases and therapeutics<\/em>\u201d &nbsp;<\/p>\n\n\n\n<p>11:30 \u2013 Coffee break and Networking<\/p>\n\n\n\n<p>12:00 \u2013 National invited speaker: Laura Siles from the Instituto de Microcirug\u00eda Ocular (IMO), \u201c<em>Retinal organoids and gene editing in Inherited Retinal Dystrophies: disease modeling using patient-derived iPSCs and potential therapeutic approximation<\/em>\u201d<\/p>\n\n\n\n<p>12:30 \u2013 Marc Riu-Villanueva, IBEC group \u201cMolecular and Cellular Neurobiology\u201d, \u201c<em>Biochemistry and functional analysis of P301L Tau in human brain cortical organoids modelling tauopathies of the FTLD spectrum<\/em>\u201d<\/p>\n\n\n\n<p>13:00 \u2013 Remarks and Closing<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><strong>Selected abstracts<\/strong>:<\/p>\n\n\n\n<h6 class=\"wp-block-heading\"><strong>Dr. Juan M. Fern\u00e1ndez-Costa<\/strong>, Institute for Bioengineering of Catalonia (IBEC), <em>Biosensors for Bioengineering<\/em> Group<\/h6>\n\n\n\n<p><strong>Next-Gen preclinical models: Muscle-on-Chip meets nanoplasmonic biosensors for drug evaluation in muscular dystrophies<\/strong><\/p>\n\n\n\n<p><strong>Muscular dystrophies<\/strong> are a group of over 70 rare genetic disorders that often result in progressive muscle degeneration and life-threatening complications. Traditional preclinical models like standard cell cultures and animal studies have proven insufficient due to the <strong>complexity and variability<\/strong> of these diseases. To overcome these limitations, Dr. Fern\u00e1ndez-Costa&#8217;s team has developed <strong>human bioengineered 3D skeletal muscle tissues<\/strong> embedded within <strong>microfluidic \u201cmuscle-on-chip\u201d platforms<\/strong>. These systems replicate essential muscle functions, such as contractility under <strong>electrical pulse stimulation (EPS)<\/strong>, and allow the study of disease-specific behaviors in a physiologically relevant setup. The innovation continues with the integration of <strong>nanoplasmonic biosensors<\/strong>, which provide <strong>real-time, non-invasive monitoring<\/strong> of key biomarkers related to <strong>muscle damage and fibrosis<\/strong>. This combined platform enables <strong>rapid and dynamic evaluation of therapeutic candidates<\/strong>, significantly accelerating drug discovery and advancing <strong>translational research<\/strong> for <strong>neuromuscular disorders<\/strong>.<\/p>\n\n\n\n<p><em>Dr. <strong>Juan M. Fern\u00e1ndez-Costa<\/strong> is a <strong>Senior Researcher<\/strong> at the <strong>Institute for Bioengineering of Catalonia (IBEC)<\/strong>, where he leads the <strong>muscle research team<\/strong> within the Biosensors for Bioengineering group. His research focuses on developing <strong>organ-on-chip models<\/strong> to better understand and treat <strong>skeletal muscle disorders<\/strong>, particularly <strong>muscular dystrophies<\/strong>. He earned his <strong>PhD in Molecular Biology and Genetics<\/strong> from the <strong>University of Valencia<\/strong> and has more than <strong>15 years of experience<\/strong> in neuromuscular disease research. As a PhD student, he discovered <strong>dysregulated microRNAs<\/strong> in <strong>myotonic dystrophy type 1 (DM1)<\/strong> and explored their <strong>therapeutic potential<\/strong>. During his postdoctoral training, he created <strong>Drosophila models<\/strong> for high-throughput drug screening and contributed to the development of <strong>antisense oligonucleotide (ASO) therapies<\/strong>. In recent years, Dr. Fern\u00e1ndez-Costa has integrated <strong>tissue engineering<\/strong> with <strong>biosensor technology<\/strong>, creating advanced preclinical platforms that <strong>bridge the gap between lab research and clinical application<\/strong>. His work is at the forefront of developing <strong>next-generation tools<\/strong> for <strong>drug screening<\/strong> and <strong>biomarker discovery<\/strong> in rare muscle diseases.<\/em><\/p>\n\n\n\n<p><\/p>\n\n\n\n<h6 class=\"wp-block-heading\"><strong>Dr. Anna Collado Gimbert<\/strong>,  Vall d\u2019Hebron Research Institute (VHIR) \u2013 <em>Childhood Cancer and Blood Disorders<\/em> Group<\/h6>\n\n\n\n<p><em><strong>Deep characterization of red blood cells in sickle cell disease and other rare anemia disorders by microfluidics and machine learning algorithms<\/strong><\/em><\/p>\n\n\n\n<p><strong>Rare hereditary hemolytic anemias (RHHA)<\/strong> are a diverse group of disorders marked by chronic red blood cell (RBC) destruction and highly variable clinical outcomes. Traditional diagnostic methods often fail to fully capture the complexity of RBC behavior in these conditions. In this talk, Dr. Collado presents a <strong>novel microfluidic platform<\/strong> that mimics <strong>splenic microcirculation<\/strong>, paired with <strong>deep learning algorithms<\/strong> for single-cell-level phenotyping of RBCs in patients with RHHA. These machine learning models are trained to differentiate <strong>healthy vs. pathological RBCs<\/strong> and to classify various specific disease states. This approach enables detailed evaluation of <strong>RBC deformability<\/strong> and <strong>flow dynamics<\/strong>, paving the way for more accurate diagnosis, patient stratification, and <strong>in vitro drug testing<\/strong>. The system demonstrates strong potential as a tool for <strong>personalized medicine<\/strong> in rare anemias. Future work includes integrating <strong>oxygen control modules<\/strong> and validating findings across larger and more diverse patient cohorts.<\/p>\n\n\n\n<p><em>Dr. <strong>Anna Collado Gimbert<\/strong> is a <strong>Pediatric Hematologist<\/strong> at <strong>Vall d\u2019Hebron University Hospital<\/strong> and a clinical researcher in the <strong>Rare Anemias Laboratory<\/strong> within the Childhood Cancer and Hematological Diseases Research Group at <strong>VHIR<\/strong>. She specializes in the <strong>diagnosis, treatment, and long-term care<\/strong> of pediatric patients with <strong>rare red blood cell disorders and anemias<\/strong>, integrating her clinical expertise with translational research. She earned her <strong>MD<\/strong> from the <strong>Autonomous University of Barcelona (2014)<\/strong>, completed her <strong>Pediatrics residency<\/strong> (2015\u20132019), and pursued a <strong>fellowship in Pediatric Oncology, Hematology, and Hematopoietic Stem Cell Transplantation<\/strong> (2019\u20132021) at Vall d\u2019Hebron University Hospital. Since 2021, she has served as a Specialist Physician in Pediatric Hematology and an active clinical researcher. Her research leverages <strong>real-world data<\/strong>, <strong>clinical registries<\/strong>, and <strong>emerging technologies<\/strong> such as <strong>artificial intelligence<\/strong> to advance <strong>precision medicine<\/strong> for rare hematologic diseases. She contributes to several national and international projects, including <strong>Genomed4ALL<\/strong>, <strong>Synthema<\/strong>, <strong>ERDERA<\/strong>, and <strong>HELIOS<\/strong>, all aimed at improving outcomes for patients with rare blood disorders. <strong>Professional Affiliations:<\/strong><\/em><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Spanish Society of Pediatric Hematology and Oncology (SEHOP) \u2013 <em>Red Cell Disorders Working Group<\/em><\/li>\n\n\n\n<li>Catalan Society of Pediatrics \u2013 <em>Pediatric Hematology Working Group<\/em><\/li>\n\n\n\n<li>Scientific Committee Member \u2013 Spanish Registry for Hemoglobinopathies and Rare Anemias (REHem-AR SEHOP)<\/li>\n<\/ul>\n\n\n\n<h6 class=\"wp-block-heading\"><strong>Prof. Francesco Saverio Tedesco<\/strong>, Francis Crick Institute<\/h6>\n\n\n\n<p><em><strong>Advanced in vitro modelling of neuromuscular diseases and therapeutics<\/strong><\/em><\/p>\n\n\n\n<p>he <strong>Tedesco Laboratory<\/strong> (<a class=\"\" href=\"http:\/\/www.tedescolab.org\">tedescolab.org<\/a>) harnesses the regenerative potential of <strong>muscle stem cells<\/strong> to develop innovative <strong>in vitro models<\/strong> and <strong>gene therapies<\/strong> for <strong>incurable neuromuscular disorders<\/strong>. Their pioneering work includes engineering <strong>artificial chromosomes<\/strong> as vectors for gene therapy (Tedesco et al., <em>Sci Transl Med<\/em> 2011; Benedetti et al., <em>EMBO Mol Med<\/em> 2018) and the generation, genetic correction, and preclinical testing of <strong>patient-derived human iPSCs<\/strong> (Tedesco et al., <em>Sci Transl Med<\/em> 2012; Maffioletti et al., <em>Nat Protoc<\/em> 2015).<\/p>\n\n\n\n<p>More recently, the lab has created <strong>3D human muscle models<\/strong> with up to four <strong>isogenic cell lineages<\/strong>, capable of replicating disease phenotypes with high fidelity. These systems are being used to test advanced therapies, including gene delivery tools and <strong>myogenic cell transplantation<\/strong> (Maffioletti et al., <em>Cell Reports<\/em> 2018; Choi et al., <em>EMBO Mol Med<\/em> 2022; Pinton et al., <em>Nat Protoc<\/em> 2023).<\/p>\n\n\n\n<p>In this talk, Prof. Tedesco will review the evolution of these <strong>iPSC-based modeling platforms<\/strong> and present <strong>new data<\/strong> on their application to <strong>congenital muscle disorders<\/strong> and the <strong>optimization of genetic therapies<\/strong>.<\/p>\n\n\n\n<p><em><strong>Prof. Francesco Saverio Tedesco<\/strong> is a <strong>clinician-scientist<\/strong> specializing in <strong>paediatric neuromuscular diseases<\/strong>, <strong>muscle regeneration<\/strong>, and <strong>disease modeling<\/strong>. He is <strong>Professor of Neuromuscular Biology and Regenerative Medicine<\/strong> at <strong>University College London<\/strong>, <strong>Senior Group Leader<\/strong> at the <strong>Francis Crick Institute<\/strong>, and an <strong>Honorary Consultant Paediatric Neurologist<\/strong> at the <strong>Dubowitz Neuromuscular Centre<\/strong>, Great Ormond Street Hospital for Children, London<\/em>. <em>He earned his <strong>Medical Degree with honours<\/strong> from <strong>Sapienza University of Rome<\/strong>, with research training at the <strong>Pasteur Institute<\/strong> in Paris. He completed his <strong>PhD<\/strong> at <strong>San Raffaele Scientific Institute<\/strong>, Milan, and his <strong>specialist training<\/strong> in paediatrics and paediatric neurology in London.<\/em> <em>Prof. Tedesco has been awarded prestigious fellowships and grants, including:<\/em><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong><em>N<\/em><\/strong><em><strong>IHR Academic Clinical Fellowship<\/strong> and <strong>Clinical Lectureship<\/strong><\/em><\/li>\n\n\n\n<li><strong><em>ERC Starting Grant<\/em><\/strong><\/li>\n\n\n\n<li><em>Leadership of the <strong>Horizon Europe consortium &#8220;MAGIC&#8221;<\/strong> (\u20ac10M, 17 institutions, 22 PIs)<\/em><\/li>\n<\/ul>\n\n\n\n<p><strong><em>Awards &amp; Honours:<\/em><\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><em>2015 \u2013 <strong>Young Investigator Award<\/strong>, European Society of Gene and Cell Therapy<\/em><\/li>\n\n\n\n<li><em>2020 \u2013 <strong>Simon Newell Investigator of the Year<\/strong>, Royal College of Paediatrics and Child Health<\/em><\/li>\n\n\n\n<li><em>2021 \u2013 <strong>MacKeith Prize<\/strong>, British Paediatric Neurology Association<\/em><\/li>\n\n\n\n<li><em>2024 \u2013 Elected <strong>Fellow of the Royal College of Paediatrics and Child Health<\/strong><\/em><\/li>\n<\/ul>\n\n\n\n<p><strong>Dr. Laura Siles Mena<\/strong>, Instituto de Microcirug\u00eda Ocular (IMO), Barcelona<\/p>\n\n\n\n<p><em><strong>Retinal organoids and gene editing in Inherited Retinal Dystrophies: disease modeling using patient-derived iPSCs and potential therapeutic approximation<\/strong><\/em><\/p>\n\n\n\n<p><strong>Inherited retinal dystrophies (IRD)<\/strong> comprise a heterogeneous group of rare genetic disorders affecting retinal cells, leading to <strong>progressive vision loss<\/strong> and ocular complications. With over <strong>300 genes<\/strong> implicated and no cure for most conditions, modeling these diseases is crucial for therapeutic development. This work utilizes <strong>patient-derived induced pluripotent stem cells (iPSCs)<\/strong> differentiated into <strong>3D retinal organoids<\/strong>, which recapitulate the structure and function of the human retina more faithfully than 2D cultures.<\/p>\n\n\n\n<p>These organoids allow in-depth disease modeling of IRDs like <strong>retinitis pigmentosa<\/strong> and <strong>Stargardt disease<\/strong>. Furthermore, <strong>gene editing<\/strong> is applied both in iPSCs and retinal cells to correct disease-causing mutations. Corrected isogenic lines demonstrate a rescue of disease phenotypes, confirming the potential of gene editing as a <strong>therapeutic strategy<\/strong>, both <strong>ex vivo<\/strong> and <strong>in vivo<\/strong>. The study underscores the utility of combining patient-derived organoids with gene editing to uncover mechanisms of pathogenesis and to develop personalized therapies for rare retinal disorders.<\/p>\n\n\n\n<p><em><strong>Dr. Laura Siles Mena<\/strong> is a <strong>postdoctoral researcher<\/strong> in the <strong>Genetics Department<\/strong> at the <strong>Instituto de Microcirug\u00eda Ocular (IMO)<\/strong> in Barcelona. Her current research focuses on the <strong>genetic diagnosis<\/strong> and <strong>pathogenesis<\/strong> of inherited retinal dystrophies (IRDs), using <strong>patient-derived iPSCs<\/strong>, <strong>3D retinal organoids<\/strong>, and <strong>gene editing<\/strong> to explore new therapeutic avenues. Prior to joining IMO, Dr. Siles conducted postdoctoral research at <strong>IDIBAPS<\/strong>, in the <strong>Transcriptional Regulation of Gene Expression Group<\/strong>, where she investigated <strong>skeletal muscle pathologies<\/strong> such as <strong>Duchenne muscular dystrophy<\/strong>, employing both <strong>mouse models<\/strong> and <strong>human embryonic stem cells<\/strong>. Her work also addressed the role of <strong>transcription factors<\/strong> in <strong>tumor progression and metastasis<\/strong>. Her interdisciplinary expertise bridges <strong>ophthalmic genetics<\/strong>, <strong>stem cell biology<\/strong>, and <strong>molecular medicine<\/strong>, with a focus on developing advanced <strong>disease models<\/strong> and <strong>personalized therapies<\/strong> for rare genetic conditions.<\/em><\/p>\n\n\n\n<p><strong>Marc Riu-Villanueva<\/strong>, IBEC \u2013 Molecular and Cellular Neurobiotechnology Group<\/p>\n\n\n\n<p><strong><em>Biochemistry and functional analysis of P301L Tau in human brain cortical organoids modelling tauopathies of the FTLD spectrum<\/em><\/strong><\/p>\n\n\n\n<p>The <strong>P301L mutation<\/strong> in the <em>MAPT<\/em> gene, which encodes the microtubule-associated protein <strong>Tau<\/strong>, is a well-established pathogenic variant linked to <strong>rare inherited tauopathies<\/strong>. This mutation disrupts Tau\u2019s normal function by promoting <strong>toxic fibrillar aggregation<\/strong>, a key feature in several neurodegenerative conditions. These include <strong>Frontotemporal Dementia with Parkinsonism linked to chromosome 17 (FTDP-17)<\/strong> (Orpha 282), as well as, to a lesser extent, <strong>Progressive Supranuclear Palsy (PSP)<\/strong> (Orpha 683) and <strong>Corticobasal Degeneration (CBD)<\/strong> (Orpha 240103).<\/p>\n\n\n\n<p>In this presentation, we will discuss the use of <strong>human cortical brain organoids (hCBOs)<\/strong> derived from <strong>pluripotent stem cells<\/strong> to model the <strong>biochemical and functional impact of P301L Tau<\/strong>. This 3D in vitro model allows detailed exploration of tau aggregation dynamics and offers a powerful platform for studying disease mechanisms and therapeutic responses in rare tauopathies of the <strong>FTLD spectrum<\/strong>.<\/p>\n\n\n\n<p><em><strong>Marc Riu-Villanueva<\/strong> is a <strong>PhD student<\/strong> in the <strong>Molecular and Cellular Neurobiotechnology Group<\/strong> at the Institute for Bioengineering of Catalonia (IBEC). He holds a degree in <strong>Biomedical Sciences<\/strong> from the International University of Catalonia and conducted his undergraduate thesis at the <strong>University of Coimbra<\/strong>, where he investigated <strong>neuronal plasticity<\/strong> and <strong>mitochondrial fission<\/strong>. Marc later obtained a <strong>Master&#8217;s in Neuroscience<\/strong> from the <strong>University of Barcelona<\/strong>, focusing his thesis on modeling the <strong>ultra-rare disease spastic paraplegia type 52<\/strong> using patient-derived <strong>iPSCs<\/strong>. His current doctoral research explores <strong>rare tauopathies<\/strong> through <strong>3D human brain organoid models<\/strong>, aiming to uncover the molecular consequences of disease-associated <strong>MAPT mutations<\/strong> and identify potential therapeutic interventions.<\/em><\/p>\n\n\n\n<p><\/p>\n<\/div><\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel gutena-accordion-block__panel\">\n<div class=\"wp-block-gutena-accordion-panel-title gutena-accordion-block__panel-title\"><div class=\"gutena-accordion-block__panel-title-inner\">\n<h6 class=\"wp-block-heading has-text-align-left\" style=\"margin-top:0px;margin-right:0px;margin-bottom:0px;margin-left:0px\">Workshop 3: <strong>Identification of Biomarkers and Diagnostic Models for Rare Diseases<\/strong>&nbsp;<\/h6>\n<div class=\"trigger-plus-minus\"><div class=\"horizontal\"><\/div><div class=\"vertical\"><\/div><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel-content gutena-accordion-block__panel-content\"><div class=\"gutena-accordion-block__panel-content-inner\">\n<p style=\"margin-top:0;margin-bottom:0\">Date: &nbsp;Thursday 13\/11\/2025 \u00b7 09:20h &#8211; 13:10h<\/p>\n\n\n\n<p style=\"margin-top:0;margin-bottom:0\">Baobab room, Tower I, Floor 11, IBEC&nbsp;<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>This third workshop focuses on the latest technologies for identifying new biomarkers to enable early detection and better characterization of rare diseases. It also aims to explore strategies for using biomarkers to monitor disease progression and incorporate them as secondary endpoints in clinical trials.<\/p>\n\n\n\n<p>The session will open with Marina Giannotti from IBEC\u2019s&nbsp;<em>Nanoprobes &amp; Nanoswitches<\/em>&nbsp;group, whose research explores mechanical biomarkers and evaluates therapeutic approaches for several rare conditions, including lysosomal storage disorders and collagen VI-related dystrophies. This will be followed by a presentation from Turgut Durduran of ICFO\u2019s&nbsp;<em>Medical Optics<\/em>&nbsp;group&nbsp;(ICFO-MEDOPT), who will showcase his collaborative work with Sant Joan de D\u00e9u Hospital on rare pediatric diseases. This interdisciplinary group focuses on creating advanced photonic technologies to support pre-clinical and clinical biomedicine.<\/p>\n\n\n\n<p>The plenary lecture will be delivered by international guest Pietro Spitali, from the&nbsp;<em>Department of Human Genetics at Leiden University Medical Center<\/em>&nbsp;(Netherlands). His research focuses on advancing our understanding of neuromuscular disorders through biomarker-based approaches. His group combines spatial technologies to connect biomarker signatures with tissue morphology and employs a multidisciplinary strategy that integrates molecular biomarker discovery in blood samples with a range of \u201comics\u201d techniques. His work spans quantitative laboratory methods, statistical modeling, and the integration of complex datasets. After a networking break, Marc Molt\u00f3 from VHIR\u2019s&nbsp;<em>Clinical Biochemistry, Drug Delivery and Therapy<\/em>&nbsp;group will present their recent progress in biomarker identification for lysosomal storage disorders.<\/p>\n\n\n\n<p>The workshop will conclude with a talk by Aranzazu Villasante of IBEC\u2019s&nbsp;<em>Nanobioengineering<\/em>&nbsp;group, who will present their work on biomarker discovery using engineered models of rare cancers.<\/p>\n\n\n\n<p><strong>Program<\/strong><\/p>\n\n\n\n<p>09:20 \u2013 Registration<\/p>\n\n\n\n<p>09:30 \u2013 Welcome and introduction<\/p>\n\n\n\n<p>09:40 \u2013 Marina Giannotti, IBEC group \u201cNanoprobes &amp; Nanoswitches\u201d, \u201c<em>Nanomechanics in the search for Disease Markers: Focus on Molecular Dystrophy and Lipidosis<\/em>\u201d<\/p>\n\n\n\n<p>10:10 \u2013 National invited speaker:&nbsp;Turgut Durduran from ICFO-Medical Optics (ICFO-MEDOPT) group.&nbsp;<em>&#8220;&#8221;Non-invasive measurement of deep tissue oxygen metabolism and blood flow:&nbsp; background, clinical relevance and potential for personalized treatment of rare diseases&#8221;.<\/em><\/p>\n\n\n\n<p>10:40 \u2013 International invited speaker:&nbsp;Pietro Spitali from Human Genetics Department of the Leiden University Medical Center (Netherlands), \u201c<em>Circulating and local biomarkers in neuromuscular disorders<\/em>\u201d&nbsp;<\/p>\n\n\n\n<p>11:30 \u2013 Coffee break and Networking<\/p>\n\n\n\n<p>12:00 \u2013 National invited speaker:&nbsp;Marc Molt\u00f3 from VHIR group \u201cClinical Biochemistry, Drug Delivery and Therapy\u201d, \u201c<em>Biomarkers in Fabry disease: Challenges in clinical diagnosis and follow-up<\/em>\u201d<\/p>\n\n\n\n<p>12:30 \u2013Aranzazu Villasante, IBEC Group \u201cNanobioengineering\u201d, \u201c<em>Predictive Bioengineered Niches for Biomarker Discovery in Developmental Cancers<\/em>\u201d<\/p>\n\n\n\n<p>13:00 \u2013 Remarks and Closing<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><strong>Selected asbtracts:<\/strong><\/p>\n\n\n\n<p><strong>Nanomechanics in the search for Disease Markers: Focus on Molecular Dystrophy and Lipidosis<\/strong><\/p>\n\n\n\n<p><em>Marina Giannotti, IBEC Group &#8220;Nanoprobes &amp; Nanoswitches&#8221;<\/em><\/p>\n\n\n\n<p>Nanomechanics, a branch of nanoscience, investigates the fundamental mechanical properties (elastic, thermal, and kinetic) of physical systems at the nanometer scale. Our work focuses on applying nanotechnology tools\u2014such as atomic force microscopy and spectroscopy\u2014to identify disease- and phenotype-specific traits that can significantly contribute to diagnosis and prognosis.&nbsp;<\/p>\n\n\n\n<p>We are currently studying rare diseases including collagen VI\u2013related dystrophies (COL6-RD) and lysosomal storage disorders (LSD). COL6-RD comprise a group of congenital neuromuscular conditions caused by mutations in one of the three major COL6 genes, leading to deficiency or dysfunction of collagen VI in the extracellular matrix of connective tissues. This defect disrupts the assembly and structural integrity of the fibrillar network. Nanomechanical analyses of model matrices derived from COL6-RD patients allowed us to define a healthy range for the Young\u2019s modulus, outside of which disease phenotypes can be clearly distinguished. A proof-of-concept assay using genetically edited cells demonstrated restoration of normal mechanical properties after gene correction.&nbsp;<\/p>\n\n\n\n<p>We also investigate lipid-related alterations in Gaucher disease (GD) and Fabry disease (FD), two systemic, progressive, and frequently underdiagnosed LSDs caused by mutations in lysosomal enzymes that lead to pathological lipid accumulation. These lipid storage defects result in a spectrum of clinical manifestations, ranging from organ dysfunction to neurological involvement. Our work examines how lipid alterations affect membrane and cellular biophysics in lipidoses such as GD and FD, moving from studies of model membrane nanomechanics to analyses of patient cell mechanics.<\/p>\n\n\n\n<p><em><strong>Marina Giannotti<\/strong> is an Assistant Professor at the Faculty of Chemistry and a researcher at the Institut de Qu\u00edmica Te\u00f2rica i Computacional of the University of Barcelona. She is also a Senior Researcher in the Nanoprobes and Nanoswitches group at IBEC and a member of the CIBER-BBN network. She holds a PhD in Materials Science (2004) from the Universidad Nacional de Mar del Plata, Argentina, and completed her postdoctoral training in force spectroscopy and nanomechanics at the University of Twente, the Netherlands (2004\u20132007). Since 2008, she has been based in Barcelona, where she leads a research line on Nanomechanics in Biological Systems.<\/em>&nbsp;<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><strong>Non-invasive measurement of deep tissue oxygen metabolism and blood flow:&nbsp; background, clinical relevance and potential for personalized treatment of rare diseases<\/strong><\/p>\n\n\n\n<p><em>Turgut Durduran from ICFO-Medical Optics (ICFO-MEDOPT) group<\/em><\/p>\n\n\n\n<p>&nbsp;I will describe the basics of near-infrared diffuse optical technologies that allow non-invasive measurement of deep tissue (&gt;1 cm) blood flow and oxygen metabolism. I will provide examples demonstrating its clinical relevance, in particular in neuro-monitoring. Finally, I will speculate about their relevance for personalized treatment of rare diseases, for example, by optimization of antegrade cerebral perfusion during neonatal cardiac surgery.<br><\/p>\n\n\n\n<p><strong>Circulating and local biomarkers in neuromuscular disorders<\/strong><\/p>\n\n\n\n<p><em>Pietro Spitali, Human Genetics Department of the Leiden University Medical Center (Netherlands)<\/em><\/p>\n\n\n\n<p>Neuromuscular disorders (NMDs) can be genetically inherited or acquired during life. Despite differences in the cause of the disease, patients with NMDs share symptoms such as muscle weakness and tissue alterations such as substitution of muscle with fibrotic and adipose tissue. In this presentation I will show how analysis of tissue sections by spatial transcriptomics can provide insight in the biology of NMDs. I will show examples of both genetic and acquired conditions such as Duchenne and Becker muscular dystrophies and Inclusion Body Myositis. I will show what cell types are present in areas where tissue lesions occur and what ligand-receptor pairs are enriched at these locations. While analysis of muscle tissue can provide new insight in the biology of the disease, single muscle biopsies do not describe the overall health status of patients. Therefore, I will then zoom out to show the evidence we collected at systemic level using blood biomarkers. I will particularly focus on the use of blood proteomic analysis to identify prognostic factors in Duchenne and Becker muscular dystrophies and how such biomarkers can be used to enrich clinical trials.&nbsp;<\/p>\n\n\n\n<p><em>Pietro Spitali received his M.Sc. at the University of Ferrara in 2007 cum laude. He received his PhD in 2010 for the work he did on Duchenne Muscular Dystrophy (DMD) at the University of Ferrara on the developed of antisense oligonucleotides (ASOs) targeting dystrophin pre-mRNA.&nbsp;&nbsp;In 2010 he moved to the group of prof. Annemieke Aartsma-Rus at the Human Genetics department of the Leiden University Medical Center in the Netherlands, first as post-doctoral researcher and later as 2014 as assistant professor. During this period Pietro focused on understanding the regulation of the DMD gene and on the identification of non-invasive biomarkers for patients affected by DMD and other neuromuscular disorders.&nbsp;&nbsp;Since 2023 he leads his own research group as associate professor at the Human Genetics department of the LUMC. His lab focuses on identification of biomarkers in neuromuscular disorders in pre-clinical and clinical studies. He is also actively researching the basic mechanism of gene expression regulation in muscle by studying RNA binding proteins, pre-mRNA synthesis and gene expression at spatial resolution. He is currently co-coordinator of Fluid Biomarker workgroup of the Duchenne Regulatory Science Consortium (D-RSC) of the Critical Path Institute, member of the TREAT-NMD Neuromuscular Disease Advisory Committee (NMDAC) and founding member of the Netherlands single-cell network.&nbsp; His research has been funded by patients organizations such as the <a href=\"https:\/\/www.spierfonds.nl\/\" target=\"_blank\" rel=\"noreferrer noopener\">Prinses Beatrix Spierfonds<\/a>, the <a href=\"http:\/\/www.afm-telethon.com\/\" target=\"_blank\" rel=\"noreferrer noopener\">AFM-T\u00e9l\u00e9thon<\/a>, the <a href=\"https:\/\/duchenne.nl\/\" target=\"_blank\" rel=\"noreferrer noopener\">Duchenne Parent Project<\/a> and <a href=\"https:\/\/www.parentprojectmd.org\/\" target=\"_blank\" rel=\"noreferrer noopener\">Parent Project Muscular Dystrophy<\/a>, as well as by EU and NIH grants and by companies such as Entrada Therapeutics and Edgewise Therapeutics.<\/em>&nbsp;<\/p>\n\n\n\n<p><strong>Biomarkers in Fabry disease: Challenges in clinical diagnosis and follow-up<\/strong><\/p>\n\n\n\n<p><em>Marc Molt\u00f3, CHIR group &#8220;Clinical Biochemistry, Drug Deivery and Therapy&#8221;<\/em><\/p>\n\n\n\n<p>Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the GLA gene, leading to reduced activity of the enzyme alpha-galactosidase A within the lysosome. This deficiency results in the progressive accumulation of globotriaosylceramide (Gb3) and related compounds across different tissues. The accumulation of these substrates triggers multiple pathogenic processes involving several mediators, which contribute to damage in multiple organs\u2014primarily the kidneys, heart, and nervous system\u2014manifesting in the clinical symptoms of the disease. Enzyme replacement therapy (ERT) has been demonstrated to delay disease progression, especially when started early. Nonetheless, diagnosing FD at an early stage remains challenging, particularly in patients with atypical or non-classic phenotypes. This challenge drives the ongoing search for biomarkers that can aid in early detection and in predicting disease course. Biomarkers related to the mediators involved in the pathogenic pathways of the disease hold promise for clinical application. Certain accumulation biomarkers may be effective in identifying non-classic FD cases and could also enhance diagnosis in female patients. Combining these with biomarkers indicative of treatment response might improve early identification of organ damage. Integrating such biomarkers into routine clinical practice could boost detection capabilities beyond those of current diagnostic tools, while also offering better insights into disease progression and prognosis.&nbsp;<\/p>\n\n\n\n<p><em>Marc Molt\u00f3 is a biologist with extensive experience in cell culture, preclinical assays, and clinical trial coordination. He is specialized in rare metabolic diseases, particularly lysosomal storage disorders, and has advanced expertise in the use of nanoparticles as therapeutic delivery systems. He obtained his PhD in Biochemistry, Molecular Biology and Biomedicine from the Universitat Aut\u00f2noma de Barcelona (2025), completing his doctoral research at the Vall d\u2019Hebron Research Institute (VHIR). His thesis focused on the use of targeted liposomes and extracellular vesicles to enhance enzyme replacement therapy in Fabry disease. Previously, he worked for three years as a Study Coordinator for clinical trials in the Unit of Minor Diseases at Vall d\u2019Hebron University Hospital, where he gained experience in clinical research, data management, patient medical record review, and regulatory documentation for emerging therapies at various stages of clinical development<\/em>.&nbsp;<\/p>\n\n\n\n<p><strong>Predictive Bioengineered Niches for Biomarker Discovery in Developmental Cancers<\/strong><\/p>\n\n\n\n<p><em>Aranzazu Villasante, IBEC Group &#8220;Nanobioengineering&#8221;<\/em>&nbsp;<\/p>\n\n\n\n<p>Understanding rare pediatric cancers requires models that capture their developmental origin and cellular plasticity. My research focuses on building human-based engineered systems to uncover mechanisms of metastasis and therapy resistance. We have developed a family of predictive tissue-engineered models\u2014including neuroblastoma, Ewing sarcoma, and osteosarcoma\u2014that replicate tissue-specific niches. These functional systems enable the study of tumor migration, vascular plasticity, and biomarker discovery under controlled conditions that reflect human physiology. Using a stiffness-based neuroblastoma model mimicking arterial and venous microenvironments, we identified Globotriaosylceramide (GB3) as a novel biomarker of tumor-derived endothelial cells (TECs), a subpopulation associated with chemoresistance and relapse. GB3 was validated as a selective marker of TECs and exploited for targeted delivery through nanoparticles functionalized with the Shiga toxin B subunit, demonstrating high specificity for GB3-positive cells.&nbsp;This integrative framework\u2014combining tissue engineering, cancer biology and nanomedicine\u2014creates a translational bridge for precision oncology in pediatric cancers and establishes a new paradigm for diagnostic and therapeutic modeling without animal use.&nbsp;<\/p>\n\n\n\n<p><em>Dr. Ar\u00e1nzazu Villasante is a Senior Researcher in the Nanobioengineering Group at the Institute for Bioengineering of Catalonia (IBEC), working in close collaboration with the Pediatric Cancer Center at Hospital Sant Joan de D\u00e9u (SJD), where she serves as a visiting researcher and leads joint translational projects. She obtained her PhD at the Spanish National Cancer Research Centre (CNIO) under Dr. Manuel Serrano and completed her postdoctoral training at Columbia University\u2019s Fu Foundation School of Engineering and Applied Science in New York City with Prof. Gordana Vunjak-Novakovic. She later conducted international research stays at the Center for Advanced Biomedical Sciences (TWIns, Tokyo Women\u2019s Medical University, Japan) in collaboration with Profs. Teruo Okano and Tatsuya Shimizu. Since 2011, her research has integrated bioengineering, oncology, and materials science to develop predictive, human-based models of pediatric cancers. Her work focuses on tissue engineering, cancer biology, and nanomedicine to uncover mechanisms of metastasis, therapy resistance, and biomarker discovery. Her recent work identified GB3 as a novel biomarker of tumor-derived vasculature in neuroblastoma, paving the way for precision diagnostics and targeted nanotherapies in developmental cancers<\/em>.<\/p>\n\n\n\n<p><\/p>\n<\/div><\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel gutena-accordion-block__panel\">\n<div class=\"wp-block-gutena-accordion-panel-title gutena-accordion-block__panel-title\"><div class=\"gutena-accordion-block__panel-title-inner\">\n<h6 class=\"wp-block-heading has-text-align-left\" style=\"margin-top:0px;margin-right:0px;margin-bottom:0px;margin-left:0px\"><strong>Workshop 4:&nbsp;Bridging Rare Diseases Scientific Research and Clinical Needs<\/strong><\/h6>\n<div class=\"trigger-plus-minus\"><div class=\"horizontal\"><\/div><div class=\"vertical\"><\/div><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-gutena-accordion-panel-content gutena-accordion-block__panel-content\"><div class=\"gutena-accordion-block__panel-content-inner\">\n<p style=\"margin-top:0;margin-bottom:0\">Date: &nbsp;Friday 27\/03\/2025 \u00b7 09:30h &#8211; 13:30h<\/p>\n\n\n\n<p style=\"margin-top:0;margin-bottom:0\">Baobab room, Tower I, Floor 11, IBEC&nbsp;&nbsp;<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>This fourth workshop aims to bring together representatives from medical hospitals, pharma and spin-off companies, patient associations, and research groups to create an interactive panel discussion on rare diseases from multiple perspectives. Following brief presentations introducing each participant\u2019s research area and expertise, a round-table discussion will take place after the coffee break to explore key challenges in communication and collaboration across disciplines.<\/p>\n\n\n\n<p>The session will focus on how scientific research can more effectively address clinical needs, and how clinicians can help guide and strengthen research directions. With contributions from patient associations and pharma\/spin-off representatives, the discussion will also highlight the development of effective therapies and the patient perspective, emphasizing the importance of strong cross-sector collaboration in the rare disease landscape.&nbsp;<\/p>\n\n\n\n<p><strong>Scheduled Program:&nbsp;<\/strong><\/p>\n\n\n\n<p>9.30 &#8211; Welcome and short introduction of the workshop&nbsp;<\/p>\n\n\n\n<p>9.40 &#8211; Invited speaker:&nbsp;Daniel Natera de Benito, Neuromuscular Unit of Hospital Sant Joan de D\u00e9u (Barcelona)<\/p>\n\n\n\n<p>10.00 &#8211; Invited speaker:\u00a0Nora Ventosa, Nora Ventosa, Co-founder and CEO of DELBIOS Pharmaceuticals SL and Co-founder and President of Nanomol Technologies SL.<\/p>\n\n\n\n<p>10.20 &#8211; Chiara Ninfali, IBEC group \u201cBiosensors for Bioengineering\u201d&nbsp;<\/p>\n\n\n\n<p>10.40 &#8211; Invited speaker:&nbsp;Maria&nbsp;Cols Roig, from Pediatric Pulmonology Department and the Cystic Fibrosis Unit, Sant Joan de D\u00e9u Hospital<\/p>\n\n\n\n<p>11.00 &#8211; Invited speaker:&nbsp;Marisol Montolio dell\u2019Olmo, Scientific director of Duchenne Parent Project Spain Association<\/p>\n\n\n\n<p>11.20 &#8211; Coffee Break and Networking&nbsp;<\/p>\n\n\n\n<p>12.00 &#8211; Round Table <\/p>\n\n\n\n<p>13.00 &#8211; Remarks and Closing&nbsp;<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><strong>Selected abstracts<\/strong>:<\/p>\n\n\n\n<p><strong>From Clinical Questions to Measurable Impact: Bridging Translational Research and Outcome Innovation in Rare Neuromuscular Diseases<\/strong><\/p>\n\n\n\n<p><strong>Daniel Natera de Benito<\/strong>, Neuromuscular Unit of Hospital Sant Joan de D\u00e9u (Barcelona)<\/p>\n\n\n\n<p>Rare diseases frequently confront clinicians with unresolved diagnostic questions, uncertain prognostic trajectories, and limited therapeutic options. In neuromuscular disorders, these unmet clinical needs often serve as the starting point for translational research initiatives.<\/p>\n\n\n\n<p>In this talk, I will discuss how concrete clinical challenges, such as unsolved genetic diagnoses, variant interpretation, and the absence of sensitive outcome measures, can generate research strategies that directly feed back into patient care. Examples will include phenotype-driven genomics, functional validation of genetic variants, and the development of digital biomarkers to capture fatigability and disease progression in neuromuscular diseases.<\/p>\n\n\n\n<p>Generating biological knowledge is not sufficient. A major structural bottleneck in rare diseases lies in the lack of robust, meaningful, and scalable outcome measures. Without reliable ways to measure change, clinical trials remain fragile and therapeutic development is delayed. Interdisciplinary collaboration between clinicians, engineers, industry partners, and patient associations is essential to develop innovative measurement tools that truly reflect patient-relevant outcomes.<\/p>\n\n\n\n<p>Bridging rare disease research and clinical needs requires molecular discoveries, but also methodological innovation and sustainable cross-sector collaboration.<\/p>\n\n\n\n<p><em>Daniel Natera-de Benito is a child neurologist and translational researcher specialized in rare neuromuscular disorders. He works at the Neuromuscular Unit of Hospital Sant Joan de D\u00e9u (Barcelona), where he combines clinical care with research focused on improving diagnosis, outcome measures, and therapeutic development in rare diseases. His work centers on phenotype-driven genomics, functional validation of genetic variants, and the development of innovative clinical and digital biomarkers, particularly in congenital myasthenic syndromes and other inherited neuromuscular conditions. He is actively involved in national and international collaborative networks and research initiatives aimed at bridging clinical needs and translational research. Dr. Natera-de Benito coordinates multicenter studies integrating clinical data, wearable sensor technologies, and patient-reported outcomes to better capture disease progression and treatment response. His projects are supported by competitive European and national funding programs.<\/em><\/p>\n\n\n\n<p><strong>Nanoparticles to transform active biomolecules into drug product candidates for rare disease treatments<\/strong><\/p>\n\n\n\n<p>Nora Ventosa, CEO and co-founder of Nanomol Technologies S.L and DELBIOS Pharmaceuticals SL spin-off of CSIC<\/p>\n\n\n\n<p>Nanoparticles are showing great potential for the versatile and efficient development of new drug products and vaccines. In my talk I\u2019ll show the potential of liposomal nanoparticle-based formulations for the development of efficient enzyme replacement therapies for the treatment of lysosomal storage disorders, an important group of rare diseases. I\u2019ll highlight important manufacturing, characterization, regulatory, intellectual property, financial, and team-building issues that we have faced and need to be considered to advance from lab research results towards clinical testing<em>.<\/em><\/p>\n\n\n\n<p><em>Nora Ventosa is an associate research professor at the Spanish Research Council (CSIC) and at the CIBER Spanish biomedical research network. Her research emphasizes the development of innovative methodologies utilizing green dense gases to produce metal-free nanoparticles for biomedical applications. She is actively involved in technology transfer, co-founding in 2010 Nanomol Technologies S.L., a company dedicated to the industrial implementation of green processes for micro- and nanoparticulate material production, and in 2024 Delbios Pharmaceuticals SL, dedicated to the advancement of medicinal nanoparticle-based formulations towards clinical phases. Nora Ventosa has coordinated several big interdisciplinary research and innovation European projects (such as RIA and EIC Transition) for the pharmaceutical development and progress of nanoparticle-based new therapies for rare diseases towards the clinics. She is co-inventor of more than 50 patents under exploitation, and she is co-author of around 120 articles published in international scientific journals<\/em><\/p>\n\n\n\n<p><strong>Toward Comprehensive Modeling of Duchenne Muscular Dystrophy: A 3D Co-Culture Approach<\/strong><\/p>\n\n\n\n<p>Chiara Ninfali, IBEC, Biosensors for Bioengineering group<\/p>\n\n\n\n<p>Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder characterized by progressive muscle degeneration and the replacement of muscle fibers with fibrotic tissue, resulting from impaired regenerative capacity. Fibro-adipogenic progenitors (FAPs) play a central role in driving fibrosis, making them key contributors to disease progression and promising targets for therapeutic intervention.<\/p>\n\n\n\n<p>In this talk, I will present our recent work on the development of a functional 3D in vitro co-culture model of human engineered skeletal muscle. This platform enables the co-culture of myogenic precursors with FAPs isolated from three healthy donors and three DMD patients, allowing us to capture inter-individual variability. We performed comprehensive functional and structural analyses of the engineered tissues, alongside molecular profiling using bulk RNA sequencing. Our results highlight the importance of patient-specific variability in DMD pathophysiology and demonstrate the potential of this model as a platform for drug testing and personalized therapeutic selection.<\/p>\n\n\n\n<p><em><strong>Chiara Ninfali<\/strong> is a postdoctoral researcher specializing in muscle biology and bioengineered 3D tissue models, with a focus on rare muscle diseases, fibrosis, and cancer-associated muscle wasting. Currently based at IBEC, she leads research within the Biosensors for Bioengineering Group, driving projects on muscular dystrophies, fibrosis, and multi-organ platforms to study cancer cachexia. Previously, she conducted postdoctoral research at IDIBAPS, where she investigated gene regulation in muscle atrophy and cancer contexts, contributing to high-impact scientific publications. Her academic training includes a PhD in Biomedicine from the University of Barcelona and earlier degrees in molecular and sanitary biology from the University of Urbino. Dr. Ninfali uses advanced tissue engineering approaches to translate fundamental discoveries into disease-relevant platforms. As coordinator and principal investigator of competitive research initiatives, she demonstrates a clear trajectory toward scientific independence and leadership in translational muscle research.<\/em><\/p>\n\n\n\n<p><strong>From Lab to Life: Duchenne Parent Project Spain\u2019s Research Strategy<\/strong><\/p>\n\n\n\n<p>Maristol Montolio, University of Barcelona<\/p>\n\n\n\n<p>Duchenne Parent Project Spain accelerates the journey from bench to bedside by dedicating resources to the pre-clinical pipeline and translating early genetic diagnosis into accessible therapies through strategic scientific investment and expanded clinical trial networks.<\/p>\n\n\n\n<p><em>Marisol Montolio is Biologist and PhD in Neuroscience at the University of Barcelona. In 2006, she moved to Barcelona\u2019s Biomedical Research Park where she specialized in the identification of drugs for neurological diseases, including genetic and degenerative diseases. Subsequently, she continued her career in rare neural pediatric diseases with genetic basis at the University of Barcelona. Later, Dr Marisol Montolio acquired extensive experience in coordinating and executing research collaborations among academic groups, private companies and Foundations \/ Associations for the research of rare diseases. Dr Marisol Montolio is the Director of Research and Technology Department Duchenne Parent Project Spain and Curator of the Patient Registry in Spain, promoting scientific research in Duchenne and Becker Muscular Dystrophy. She is also Adjunct Lecturer at the University of Barcelona, where is the Scientific Director Chair in Rare Diseases University of Barcelona. Dr Marisol Montolio has an active collaboration with EURORDIS as a member of the European Patient Advocacy Group in the ERN (Patient Advocay Board, Research Board and member of the muscle Disseases Specialist Group). Additionally, she serves as a founding board member for the Spanish Society of Myology (SEMIO) and the World Duchenne Organization\u2019s Scientific Directors Committee. She is on the External Scientific Board of the Hospital Sant Joan de D\u00e9u, Barcelona.<\/em><\/p>\n\n\n\n<p><strong>Paradigm shift in Cystic Fibrosis<\/strong><\/p>\n\n\n\n<p>Maria Cols, Sant Joan de D\u00e9u Hospital<\/p>\n\n\n\n<p>In recent years, research has caused a turning point in the clinical evolution of cystic fibrosis, providing most affected individuals with a new quality of life and life expectancy. The main features of the disease will be presented, as well as the studies that have enabled this change and the new challenges that are emerging at the present time.<\/p>\n\n\n\n<p><em>Maria Cols is the head of the Pediatric Pulmonology Department and Cystic Fibrosis Unit of the Sant Joan de D\u00e9u Hospital Barcelona. She is also part of the multidisciplinary teams dealing with home mechanical ventilation, airway care, comprehensive treatment of neuromuscular patients, and the scoliosis committee. She is an active member of various scientific societies, and collaborates in different working groups, and in clinical trials. She has participated in several national and international conferences and publications , specially about cystic fibrosis, respiratory management in neuromuscular diseases and home mechanical ventilation in pediatrics.<\/em><\/p>\n<\/div><\/div>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<p>All IBEC groups are welcome to join the network and actively participate by sharing their insights.<\/p>\n\n\n\n<p><\/p>\n\n\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rare diseases are a diverse group of disorders with low prevalence, but if we combined all patients, they would form the world\u2019s 3rd largest population. These diseases pose significant challenges &#8230; <a title=\"Multidisciplinary approaches to tackle rare diseases with personalized medicine (diagnostics and therapies) (NET-RARE)\u00a0\" class=\"read-more\" href=\"https:\/\/ibecbarcelona.eu\/ca\/research\/ibec-intramural-thematic-networks\/multidisciplinary-approaches-to-tackle-rare-diseases-with-personalized-medicine-diagnostics-and-therapies-net-rare\/\" aria-label=\"More on Multidisciplinary approaches to tackle rare diseases with personalized medicine (diagnostics and therapies) (NET-RARE)\u00a0\">Read more<\/a><\/p>\n","protected":false},"author":26,"featured_media":122229,"parent":121662,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"tags":[],"class_list":["post-122192","page","type-page","status-publish","has-post-thumbnail"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Multidisciplinary approaches to tackle rare diseases with personalized medicine (diagnostics and therapies) (NET-RARE)\u00a0 - Institute for Bioengineering of Catalonia<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ibecbarcelona.eu\/research\/ibec-intramural-thematic-networks\/multidisciplinary-approaches-to-tackle-rare-diseases-with-personalized-medicine-diagnostics-and-therapies-net-rare\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Multidisciplinary approaches to tackle rare diseases with personalized medicine (diagnostics and therapies) (NET-RARE)\u00a0 - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"Rare diseases are a diverse group of disorders with low prevalence, but if we combined all patients, they would form the world\u2019s 3rd largest population. 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