Project description:The study of Alzheimer's disease (AD) has led to an increased understanding of the multiple pathologies and pathways of the disease. As such, it has been proposed that AD and its various stages might be most effectively treated with a combination approach rather than a single therapy; however, combination approaches present many challenges that include limitations of non-clinical models, complexity of clinical trial design, and unclear regulatory requirements. The Alzheimer's Association Research Roundtable meeting on May 7-8, 2018, discussed the approaches and challenges of combination therapy for AD. Experts in the field (academia, industry, and government) provided perspectives that may help establish a path forward for the development of new combination therapies.

| S-EPMC7539671 | biostudies-literature

Nano-fluorescence imaging: advancing lymphatic disease diagnosis and monitoring.

Project description:The lymphatic system plays a crucial role in maintaining physiological homeostasis and regulating immune responses. Traditional imaging modalities such as magnetic resonance imaging, computerized tomography, and positron emission tomography have been widely used to diagnose disorders in the lymphatic system, including lymphedema, lymphangioma, lymphatic metastasis, and Castleman disease. Nano-fluorescence technology has distinct advantages-including naked-eye visibility, operational simplicity, portability of the laser, and real-time visibility-and serves as an innovative alternative to traditional imaging techniques. This review explores recent advancements in nano-fluorescence imaging aimed at enhancing the resolution of lymphatic structure, function, and immunity. After delineating the fundamental characteristics of lymphatic systems, it elaborates on the development of various nano-fluorescence systems (including nanoparticles incorporating fluorescent dyes and those with intrinsic fluorescence) while addressing key challenges such as photobleaching, limited tissue penetration, biocompatibility, and signal interference from biomolecules. Furthermore, this review highlights the clinical applications of nano-fluorescence and its potential integration into standard diagnostic protocols. Ongoing advancements in nanoparticle technology underscore the potential of nano-fluorescence to revolutionize the diagnosis and treatment of lymphatic disease.

| S-EPMC11635084 | biostudies-literature

Advancing Genomics through the Global Invertebrate Genomics Alliance (GIGA).

Project description:The Global Invertebrate Genomics Alliance (GIGA), a collaborative network of diverse scientists, marked its second anniversary with a workshop in Munich, Germany, where international attendees focused on discussing current progress, milestones and bioinformatics resources. The community determined the recruitment and training talented researchers as one of the most pressing future needs and identified opportunities for network funding. GIGA also promotes future research efforts to prioritize taxonomic diversity and create new synergies. Here, we announce the generation of a central and simple data repository portal with a wide coverage of available sequence data, via the compagen platform, in parallel with more focused and specialized organism databases to globally advance invertebrate genomics. Therefore this article serves the objectives of GIGA by disseminating current progress and future prospects in the science of invertebrate genomics with the aim of promotion and facilitation of interdisciplinary and international research.

| S-EPMC5464758 | biostudies-literature

Advancing rare disease policy in Latin America: a call to action.

Project description:People living with a rare disease are amongst the most vulnerable groups in society. They have been historically marginalised and systematically stigmatised. It is estimated that 300 million people worldwide live with a rare disease. Despite that, many countries today, especially in Latin America, still lack consideration of rare diseases in public policies and national laws. Based on interviews with patient advocacy groups in Latin America, we aim to provide recommendations for lawmakers and policymakers in Brazil, Peru, and Colombia on how to improve public policies and national legislation for persons living with rare diseases in these three countries.

| S-EPMC9950655 | biostudies-literature

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Project description:The Australian Acute Care Genomics program provides ultra-rapid diagnostic testing to critically ill infants and children with suspected genetic conditions. Over two years, we performed whole genome sequencing (WGS) in 290 families, with average time to result of 2.9 days, and diagnostic yield of 47%. We performed additional bioinformatic analyses and transcriptome sequencing in all patients who remained undiagnosed. Long-read sequencing and functional assays, ranging from clinically accredited enzyme analysis to bespoke quantitative proteomics, were deployed in selected cases. This resulted in an additional 19 diagnoses, and an overall diagnostic yield of 54%. Diagnostic variants ranged from structural chromosomal abnormalities through to an intronic retrotransposon, disrupting splicing. Critical care management changed in 120 diagnosed patients (77%). Results informed precision treatments; surgical and transplant decisions; and palliation in 94 (60%). We propose that integration of multi-omic approaches into mainstream diagnostic practice is necessary to realise the full potential of genomic testing.

2023-10-24 | PXD042001 | Pride

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