LEADER 02534nam 2200457z- 450 001 9910557223103321 005 20211118 035 $a(CKB)5400000000041713 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/73676 035 $a(oapen)doab73676 035 $a(EXLCZ)995400000000041713 100 $a20202111d2020 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aApplying Next Generation Sequencing and Transgenic Models to Rare Disease Research 210 $cFrontiers Media SA$d2020 215 $a1 online resource (119 p.) 311 08$a2-88963-524-4 330 $aA 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. 606 $aMedical genetics$2bicssc 606 $aScience: general issues$2bicssc 610 $agenetic analysis 610 $aGenomics 610 $aNext generation sequencing 610 $aRare disease 610 $atransgenic 615 7$aMedical genetics 615 7$aScience: general issues 700 $aGouw$b Arvin M$4edt$01317941 702 $aJaishankar$b Amritha$4edt 702 $aBrooks$b George A$4edt 702 $aGouw$b Arvin M$4oth 702 $aJaishankar$b Amritha$4oth 702 $aBrooks$b George A$4oth 906 $aBOOK 912 $a9910557223103321 996 $aApplying Next Generation Sequencing and Transgenic Models to Rare Disease Research$93033116 997 $aUNINA