Advances in Rare Diseases Biomarkers
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 peo...
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| 格式: | Online |
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| 語言: | 英语 |
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MDPI - Multidisciplinary Digital Publishing Institute
2025
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| 在線閱讀: | ONIX_20250220_9783725824120_262 |
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| _version_ | 1869515124896694272 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-152898 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1528982025-02-20T13:15:11Z Advances in Rare Diseases Biomarkers Bernini, Andrea 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MB Medicine: general issues::MBP Health systems and services::MBPK Mental health services 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. 2025-02-20T13:15:08Z 2025-02-20T13:15:08Z 2024 book ONIX_20250220_9783725824120_262 9783725824120 9783725824113 https://directory.doabooks.org/handle/20.500.12854/152898 eng application/octet-stream Attribution 4.0 International https://mdpi.com/books/pdfview/book/10087 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-7258-2411-3 10.3390/books978-3-7258-2411-3 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783725824120 9783725824113 166 Basel open access |
| spellingShingle | 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MB Medicine: general issues::MBP Health systems and services::MBPK Mental health services Advances in Rare Diseases Biomarkers |
| title | Advances in Rare Diseases Biomarkers |
| title_full | Advances in Rare Diseases Biomarkers |
| title_fullStr | Advances in Rare Diseases Biomarkers |
| title_full_unstemmed | Advances in Rare Diseases Biomarkers |
| title_short | Advances in Rare Diseases Biomarkers |
| title_sort | advances in rare diseases biomarkers |
| topic | 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MB Medicine: general issues::MBP Health systems and services::MBPK Mental health services |
| topic_facet | 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 thema EDItEUR::M Medicine and Nursing thema EDItEUR::M Medicine and Nursing::MB Medicine: general issues::MBP Health systems and services::MBPK Mental health services |
| url | ONIX_20250220_9783725824120_262 |