Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare...
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| Format: | Online |
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| Langue: | anglais |
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Frontiers Media SA
2021
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| Accès en ligne: | ONIX_20211118_9782889635245_808 |
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| _version_ | 1869530720959987712 |
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| collection | Directory of Open Access Books |
| description | A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. |
| format | Online |
| id | doab-20.500.12854ir-73676 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Frontiers Media SA |
| publisherStr | Frontiers Media SA |
| record_format | ojs |
| spelling | doab-20.500.12854ir-736762024-04-04T19:19:45Z Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Gouw, Arvin M. Jaishankar, Amritha Brooks, George A. Rare disease Genomics Next generation sequencing transgenic genetic analysis thema EDItEUR::P Mathematics and Science::PD Science: general issues thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. 2021-11-18T16:22:22Z 2021-11-18T16:22:22Z 2020 book ONIX_20211118_9782889635245_808 9782889635245 https://directory.doabooks.org/handle/20.500.12854/73676 eng image/jpeg Attribution 4.0 International https://www.frontiersin.org/research-topics/5679/applying-next-generation-sequencing-and-transgenic-models-to-rare-disease-research#overview https://www.frontiersin.org/research-topics/5679/applying-next-generation-sequencing-and-transgenic-models-to-rare-disease-research#overview Frontiers Media SA 10.3389/978-2-88963-524-5 10.3389/978-2-88963-524-5 bf5ce210-e72e-4860-ba9b-c305640ff3ae 9782889635245 119 open access |
| spellingShingle | Rare disease Genomics Next generation sequencing transgenic genetic analysis thema EDItEUR::P Mathematics and Science::PD Science: general issues thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| title | Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| title_full | Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| title_fullStr | Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| title_full_unstemmed | Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| title_short | Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| title_sort | applying next generation sequencing and transgenic models to rare disease research |
| topic | Rare disease Genomics Next generation sequencing transgenic genetic analysis thema EDItEUR::P Mathematics and Science::PD Science: general issues thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| topic_facet | Rare disease Genomics Next generation sequencing transgenic genetic analysis thema EDItEUR::P Mathematics and Science::PD Science: general issues thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics |
| url | ONIX_20211118_9782889635245_808 |