{"id":7972,"date":"2025-02-28T10:36:43","date_gmt":"2025-02-28T09:36:43","guid":{"rendered":"https:\/\/www.iqac.csic.es\/iqac-csics-commitment-to-rare-disease-research\/"},"modified":"2026-06-16T11:11:22","modified_gmt":"2026-06-16T09:11:22","slug":"iqac-csics-commitment-to-rare-disease-research","status":"publish","type":"post","link":"https:\/\/www.iqac.csic.es\/en\/iqac-csics-commitment-to-rare-disease-research\/","title":{"rendered":"IQAC-CSIC\u2019s Commitment to Rare Disease Research"},"content":{"rendered":"<p><strong>A disease is considered to be rare when it affects 5 people per 10,000<\/strong>, a small number of people compared to the general population. Currently, there are more than 7,000 rare diseases described, affecting 300 million people in the world, and 3 million people in Spain. Since 2008, <strong>Rare Disease Day<\/strong> has been held on the last day of February. This date was chosen because February is a \u201crare month,\u201d and the last day of the month was selected to symbolize the rarity of both the diseases and the month itself.<\/p>\n<p>Given the rarity of these diseases, funding for their research is limited. However, the <strong>Institute for Advanced Chemistry of Catalonia<\/strong> is highly aware of the importance of this research, developing therapies, diagnostics, and molecules to offer treatments for these pathologies.<\/p>\n<p>Researchers from the Supramolecular Chemistry group work with patients diagnosed with cystinosis, a nephrology disease related with intracellular cystine accumulation. \u201cWe are currently carrying out a pilot assay with blood samples from real patients for the BACDA project, in collaboration with Vall d\u2019Hebron Hospital in Barcelona, thanks to the competitive the funding obtained from Caixa Research Validate Call\u201d, declares <strong>Ignacio Alfonso<\/strong>, researcher from the Supramolecular Chemistry group. This disease affects 1 in every 100,000 children.<\/p>\n<p>Another area of research being pursued is ichthyosis, an incurable chronic skin disease, causing extreme dryness, itching, redness and, in severe cases, disfigurement. \u201cThe skin with ichthyosis does not synthesize acylceramides properly, which are essential components for the correct formation of skin tissue\u201d, explains the researcher <strong>Olga L\u00f3pez<\/strong>. Her research group is currently working in the ERA4Health funding programme \u201cLIPARCI2\u201d project, aimed to a treatment based on nanostructures that deliver acylceramides to skin with ichthyosis. These components are essential for the correct formation of skin tissue and are deficient in skin with ichthyosis.<\/p>\n<p>The Nanobiotechnology for Diagnostics group focuses on studying lung diseases, including cystic fibrosis and Alpha-1 Antitrypsin Deficiency, with an emphasis on early diagnosis and the development of new treatment strategies \u201cA rapid and highly sensitive diagnosis should enable immediate implementation of an appropriate treatment, thereby preventing potential complications\u201d, explains the researcher <strong>Llu\u00efsa Vilaplana<\/strong>.<\/p>\n<p>Apart from these diseases mentioned, IQAC-CSIC research groups study a wide range of rare diseases, including cancer, with particular attention to neuroblastoma and glioblastoma. These tumour diseases are being studied to develop nanoparticles for enhanced targeting and drug delivery. Additionally, research is ongoing into neurodegenerative diseases such as Myotonic Dystrophy Type 1, Kennedy\u2019s disease, and Collagen VI-related Congenital Muscular Dystrophy, as well as other conditions like Farber Disease, Fabry Disease, and Pompe Disease.<\/p>\n<p>CSIC has recently created a<a href=\"https:\/\/rer-biomed.csic.es\/\" target=\"_blank\" rel=\"noopener\"> <strong>Scientific Network on Rare Diseases (RER-CSIC)<\/strong><\/a>, which brings together 120 research groups, and aims to create collaborations between CSIC scientists who study some of these pathologies. IQAC researchers participate on this CSIC Network to promote knowledge and a multidisciplinary approach to these diseases.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A disease is considered to be rare when it affects 5 people per 10,000, a small number of people compared to the general population. Currently, there are more than 7,000 rare diseases described, affecting 300 million people in the world, and 3 million people in Spain. Since 2008, Rare Disease Day has been held on<a class=\"more-link\" href=\"https:\/\/www.iqac.csic.es\/en\/iqac-csics-commitment-to-rare-disease-research\/\">Continue reading <span class=\"screen-reader-text\">&#8220;IQAC-CSIC\u2019s Commitment to Rare Disease Research&#8221;<\/span><\/a><\/p>\n","protected":false},"author":3,"featured_media":4031,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[70],"tags":[],"class_list":["post-7972","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>IQAC-CSIC\u2019s Commitment to Rare Disease Research | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC<\/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:\/\/www.iqac.csic.es\/el-compromiso-de-iqac-csic-con-la-investigacion-de-enfermedades-raras\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"IQAC-CSIC\u2019s Commitment to Rare Disease Research | IQAC - Institut de Qu\u00edmica Avan\u00e7ada de Catalunya - CSIC\" \/>\n<meta property=\"og:description\" content=\"A disease is considered to be rare when it affects 5 people per 10,000, a small number of people compared to the general population. 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