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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Gouw, Arvin M. edt Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research Frontiers Media SA 2020 1 electronic resource (119 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier Open access Unrestricted online access star 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. English Science: general issues bicssc Medical genetics bicssc Rare disease Genomics Next generation sequencing transgenic genetic analysis 2-88963-524-4 Jaishankar, Amritha edt Brooks, George A. edt Gouw, Arvin M. oth Jaishankar, Amritha oth Brooks, George A. oth |
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English |
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eBook |
author2 |
Jaishankar, Amritha Brooks, George A. Gouw, Arvin M. Jaishankar, Amritha Brooks, George A. |
author_facet |
Jaishankar, Amritha Brooks, George A. Gouw, Arvin M. Jaishankar, Amritha Brooks, George A. |
author2_variant |
a m g am amg a j aj g a b ga gab |
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HerausgeberIn HerausgeberIn Sonstige Sonstige Sonstige |
title |
Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
spellingShingle |
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_auth |
Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
title_new |
Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
title_sort |
applying next generation sequencing and transgenic models to rare disease research |
publisher |
Frontiers Media SA |
publishDate |
2020 |
physical |
1 electronic resource (119 p.) |
isbn |
2-88963-524-4 |
illustrated |
Not Illustrated |
work_keys_str_mv |
AT gouwarvinm applyingnextgenerationsequencingandtransgenicmodelstorarediseaseresearch AT jaishankaramritha applyingnextgenerationsequencingandtransgenicmodelstorarediseaseresearch AT brooksgeorgea applyingnextgenerationsequencingandtransgenicmodelstorarediseaseresearch |
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(CKB)5400000000041713 (oapen)https://directory.doabooks.org/handle/20.500.12854/73676 (EXLCZ)995400000000041713 |
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Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
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1790306793726935040 |
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