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Rare Disease Policy in High-Income Countries: An Overview of Achievements, Challenges, and Solutions.
Value Health
January 2025
Canadian Organization for Rare Disorders.
Objectives: To provide an overview of policy initiatives in high-income countries aimed at supporting the development and accessibility of treatments for rare diseases.
Methods: We examine how legislative, research, and pricing policies in high-income countries address barriers that have historically hindered innovation and access to rare disease treatments. By analysing examples from the EU, UK, US, Canada, Japan, and Australia, the article identifies ongoing initiatives, outlines current challenges, and explores proposed solutions to foster a sustainable, innovative, and accessible rare disease treatment ecosystem.
Trithorax regulates long-term memory in Drosophila through epigenetic maintenance of mushroom body metabolic state and translation capacity.
PLoS Biol
January 2025
Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, Canada.
The role of epigenetics and chromatin in the maintenance of postmitotic neuronal cell identities is not well understood. Here, we show that the histone methyltransferase Trithorax (Trx) is required in postmitotic memory neurons of the Drosophila mushroom body (MB) to enable their capacity for long-term memory (LTM), but not short-term memory (STM). Using MB-specific RNA-, ChIP-, and ATAC-sequencing, we find that Trx maintains homeostatic expression of several non-canonical MB-enriched transcripts, including the orphan nuclear receptor Hr51, and the metabolic enzyme lactate dehydrogenase (Ldh).
View Article and Find Full Text PDFA Multidisciplinary Approach to Diagnosing Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN): Practical Recommendations and Insights from Countries of the Gulf Cooperation Council.
Cancers (Basel)
January 2025
ARUP Laboratories, Department of Pathology, University of Utah, Salt Lake City, UT 84103, USA.
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive orphan hematopoietic malignancy characterized by cutaneous and systemic hematologic involvement. BPDCN is frequently misidentified, but early, accurate diagnosis is critical to extending patient survival using tagraxofusp, a first-in-class CD123-targeted therapy, and increasing their chances of receiving a potentially curative stem cell transplantation. Cases of BPDCN in countries of the Gulf Cooperation Council are lower than the extrapolated incidence from other geographic locations due to lack of awareness of key diagnostic features, lack of consensus on the minimal phenotype for diagnosis, and lack of local immunohistochemistry testing facilities, contributing to underdiagnosis in this region.
View Article and Find Full Text PDFUnderstanding HIV-Related Mental Health Challenges and Contributing Factors Among Indonesian Adolescents Living with HIV.
Int J Environ Res Public Health
January 2025
Centre for Public Health, Equity and Human Flourishing, Torrens University Australia, Adelaide 5000, Australia.
Human Immunodeficiency Virus (HIV) has disproportionately affected various population groups, including adolescents living with HIV (ALHIV). In many contexts, ALHIV have been reported to experience mental health issues following their HIV diagnosis. However, there is a limited understanding of the mental health issues faced by ALHIV in Indonesia and the various contributing factors globally.
View Article and Find Full Text PDFAn overview of small-molecule agents for the treatment of psoriasis.
Bioorg Med Chem
January 2025
Guangdong Key Laboratory of Animal Conservation and Resource Utilization, Guangdong Public Laboratory of Wild Animal Conservation and Utilization, Institute of Zoology, Guangdong Academy of Sciences, Guangzhou, Guangdong 510260, China. Electronic address:
Psoriasis is a prevalent, chronic inflammatory disease characterized by abnormal skin plaques. To date, physical therapy, topical therapy, systemic therapy and biologic drugs are the most commonly employed strategies for treating psoriasis. Recently, many agents have advanced to clinical trials, and some anti-psoriasis drugs have been approved, including antibody drugs and small-molecule drugs.
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