An increasing number of novel genomic therapies are expected to become available for patients with rare or ultra-rare diseases. However, the primary obstacle to equal patient access to these orphan genomic therapies are currently very high prices charged by manufacturers in the context of limited healthcare budgets. Taking into account ethical pricing theories, the paper proposes the implementation of a pricing infrastructure covering all European member states, which has the potential to promote distributive justice while maintaining the attractiveness of genomic therapy development.
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http://dx.doi.org/10.1038/s41434-024-00452-2 | DOI Listing |
J Pathol Clin Res
January 2025
Department of Urology, University of Duisburg-Essen, Essen, Germany.
Distinct molecular subtypes of muscle-invasive bladder cancer (MIBC) may show different platinum sensitivities. Currently available data were mostly generated at transcriptome level and have limited comparability to each other. We aimed to determine the platinum sensitivity of molecular subtypes by using the protein expression-based Lund Taxonomy.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported.
View Article and Find Full Text PDFFront Parasitol
August 2023
Division of Infectious Diseases, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States.
Introduction: Soil transmitted nematodes are impediments to human health and agricultural production. Poor anthelmintic efficiencies, the emergence of resistant strains, and the persistence of infective stages highlight the need for more effective control strategies. Parasitic nematodes elicit a Th2-type immune response that most often is not protective.
View Article and Find Full Text PDFMediators Inflamm
January 2025
School of Pharmaceutical Sciences, Zhejiang Chinese Medical University, Hangzhou 310053, China.
This study aims to investigate the mechanism of Diels et Gilg flavonoids (THF) on acute hepatic injury (AHI). First, high-performance liquid chromatography (HPLC) fingerprints were established to obtain the main chemical components of THF. According to the network pharmacology databases, collect active targets of AHI and potential targets.
View Article and Find Full Text PDFFront Antibiot
December 2023
Department of Biochemistry & Microbiology, North South University, Dhaka, Bangladesh.
spp. are Gram-negative, non-spore forming, rod-shaped, facultative anaerobic bacteria from the family often found in soil, sewage, sludge, water, food, and the intestinal tracts of animals and humans. Several members of spp.
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