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      Repurposing Drugs – Repurposing Diseases

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      conference-abstract
      1
      REPO4EU
      RExPO24
      3-5 July 2024
      Rare diseases, Phenotypes, Genotypes, Monogenic conditions, Innovative therapeutic principles, Precision diagnostics, Disease-overarching clinical research, Children's rights
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            Abstract

            A disease is considered rare, when fewer than 1 in 2.000 individuals is affected. Children with rare diseases have traditionally been considered “therapeutic orphans” since the development and commercialization of therapies to treat affected patients rarely promise lucrative financial gains. In view of great progress in molecular and cellular sciences, the emergence of biotechnological tools as well as the rapid development of computer sciences, there is increasing hope for children and their families that previously incurable diseases may in fact be curable in the foreseeable future. Furthermore, disease-overarching perspectives will allow us to re-interpret phenotypes and genotypes. Rare diseases, mostly monogenic conditions, open new avenues of research to understand genes and pathways controlling differentiation, homeostasis and function of cells and organs. While there are historic and ethical reasons to distinguish rare and common diseases, this distinction should not make us believe that rare and common diseases should be fundamentally viewed as separate entities. In fact, translational sciences in rare diseases are critical to define innovative therapeutic principles for patients with common diseases. This thesis will be supported by clinical and scientific data from children with rare diseases of the blood and immune system.

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            Author and article information

            Conference
            REPO4EU
            16 April 2024
            Affiliations
            [1 ] Department of Pediatrics, Dr. von Hauner Childrens Hospital, LMU Klinikum, Munich Germany ( https://ror.org/02jet3w32)
            Author information
            https://orcid.org/0000-0003-0956-0445
            Article
            10.58647/REXPO.24001
            2a1c3d03-97e2-4035-b77b-c70a22fbc085
            The Author

            Published under Creative Commons Attribution 4.0 International ( CC BY 4.0). Users are allowed to share (copy and redistribute the material in any medium or format) and adapt (remix, transform, and build upon the material for any purpose, even commercially), as long as the authors and the publisher are explicitly identified and properly acknowledged as the original source.

            RExPO24
            3
            Munich, Germany
            3-5 July 2024
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            REPO4EU

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            Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
            Medicine,Pediatrics,Molecular medicine,Pharmacology & Pharmaceutical medicine
            Rare diseases,Phenotypes,Genotypes,Monogenic conditions,Innovative therapeutic principles,Precision diagnostics,Disease-overarching clinical research,Children's rights

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