Advances in Rare Diseases Biomarkers
| Title: | Advances in Rare Diseases Biomarkers |
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| Contributors: | Bernini, Andrea |
| Publisher Information: | Basel: MDPI - Multidisciplinary Digital Publishing Institute, 2024. |
| Publication Year: | 2024 |
| Subject Terms: | galectin-3, aminotransferase, calprotectin, urine, primary sclerosing cholangitis, inflammatory bowel disease, inborn errors of metabolism (IEMs), maple syrup urine disease (MSUD), genetic testing, newborn screening alloisoleucine, methionine sulfoxide, LysoPI, untargeted metabolomics, liquid chromatography high-resolution mass spectrometry, extracellular vesicles (EVs), uveal melanoma, aqueous humor (AH), liquid biopsy, ocular cancer, diagnosis, rare disease, PXE, threshold, PPi, PPi quantification, toll-like receptors (TLRs), epiretinal membranes (ERMs), vitreous, complement fragments, extra-cellular matrix (ECM), innate immunity, inflammation, tissue remodeling, vitreoretinal diseases, progressive supranuclear palsy, microRNAs, biomarkers, atypical parkinsonian disorders, obesity, ciliopathy, biomarker, RASopathies, molecular signatures, precision medicine, personalized diagnostics, gastric cancer, intestinal metaplasia, metabolomics, metabolite profiling, hemophilic arthropathy, biomarkers in hemophilic arthropathy, joint lesions in hemophilia, Medicine and Nursing, Mental health services |
| More Details: | A rare disease is a health condition with a lower prevalence than common diseases. The World Health Organization defines a rare disease as one that strikes fewer than 65 per 100,000 people. However, their combined effect is significant: around 7,000 rare diseases affect approximately 350 million people worldwide.Biomarkers play a crucial role in diagnosing and monitoring rare diseases, which are often challenging to detect and understand due to their low prevalence and diverse clinical manifestations. Biomarkers serve as measurable indicators of biological processes or conditions in rare diseases, offering valuable insights into disease mechanisms and progression. These markers may include genetic mutations, protein levels, or other molecular signatures unique to a rare condition. The discovery and validation of such biomarkers contribute to early detection and the development of targeted therapies, allowing for more effective and personalized treatment approaches.As technology advances, the integration of omics technologies, such as genomics, proteomics, and metabolomics, has further expanded the repertoire of potential biomarkers, fostering a deeper understanding of rare diseases and paving the way for innovative diagnostic and therapeutic strategies. Biomarkers enhance our ability to navigate diagnostic challenges and promise to improve patient care and foster breakthroughs in treatment modalities. |
| Document Type: | eBook |
| File Description: | application/octet-stream |
| Language: | English |
| ISBN: | 978-3-7258-2412-0 978-3-7258-2411-3 |
| DOI: | 10.3390/books978-3-7258-2411-3 |
| Access URL: | https://directory.doabooks.org/handle/20.500.12854/152898 https://mdpi.com/books/pdfview/book/10087 |
| Rights: | Attribution 4.0 International open access URL: http://purl.org/coar/access_right/c_abf2 URL: https://creativecommons.org/licenses/by/4.0/ |
| Notes: | ONIX_20250220_9783725824120_262 |
| Accession Number: | edsdob.20.500.12854.152898 |
| Database: | Directory of Open Access Books |
| ISBN: | 9783725824120 9783725824113 |
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| DOI: | 10.3390/books978-3-7258-2411-3 |
| Language: | English |