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• W2158752749 abstract "With the advent of next-generation DNA sequencing, the pace of inherited orphan disease gene identification has increased dramatically, a situation that will continue for at least the next several years. At present, the numbers of such identified disease genes significantly outstrips the number of laboratories available to investigate a given disorder, an asymmetry that will only increase over time. The hope for any genetic disorder is, where possible and in addition to accurate diagnostic test formulation, the development of therapeutic approaches. To this end, we propose here the development of a strategic toolbox and preclinical research pathway for inherited orphan disease. Taking much of what has been learned from rare genetic disease research over the past two decades, we propose generalizable methods utilizing transcriptomic, system-wide chemical biology datasets combined with chemical informatics and, where possible, repurposing of FDA approved drugs for pre-clinical orphan disease therapies. It is hoped that this approach may be of utility for the broader orphan disease research community and provide funding organizations and patient advocacy groups with suggestions for the optimal path forward. In addition to enabling academic pre-clinical research, strategies such as this may also aid in seeding startup companies, as well as further engaging the pharmaceutical industry in the treatment of rare genetic disease." @default.
• W2158752749 created "2016-06-24" @default.
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• W2158752749 date "2012-06-15" @default.
• W2158752749 modified "2023-09-30" @default.
• W2158752749 title "A generalizable pre-clinical research approach for orphan disease therapy" @default.
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• W2158752749 cites W1964630716 @default.
• W2158752749 cites W1968104064 @default.
• W2158752749 cites W1968569455 @default.
• W2158752749 cites W1972678028 @default.
• W2158752749 cites W1972821149 @default.
• W2158752749 cites W1975551833 @default.
• W2158752749 cites W1981133869 @default.
• W2158752749 cites W1981632300 @default.
• W2158752749 cites W1984678368 @default.
• W2158752749 cites W1986516145 @default.
• W2158752749 cites W1988397255 @default.
• W2158752749 cites W1989959309 @default.
• W2158752749 cites W1994658365 @default.
• W2158752749 cites W2000725203 @default.
• W2158752749 cites W2000953906 @default.
• W2158752749 cites W2005508652 @default.
• W2158752749 cites W2009081245 @default.
• W2158752749 cites W2009313526 @default.
• W2158752749 cites W2016097940 @default.
• W2158752749 cites W2017725062 @default.
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• W2158752749 cites W2035847970 @default.
• W2158752749 cites W2042380110 @default.
• W2158752749 cites W2045107986 @default.
• W2158752749 cites W2055887603 @default.
• W2158752749 cites W2057278847 @default.
• W2158752749 cites W2059754026 @default.
• W2158752749 cites W2062224011 @default.
• W2158752749 cites W2067492897 @default.
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• W2158752749 cites W2076764146 @default.
• W2158752749 cites W2078078890 @default.
• W2158752749 cites W2080094665 @default.
• W2158752749 cites W2084267598 @default.
• W2158752749 cites W2085726823 @default.
• W2158752749 cites W2085811948 @default.
• W2158752749 cites W2092723276 @default.
• W2158752749 cites W2093313266 @default.
• W2158752749 cites W2094791588 @default.
• W2158752749 cites W2097891553 @default.
• W2158752749 cites W2098490713 @default.
• W2158752749 cites W2098824600 @default.
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• W2158752749 cites W2109276727 @default.
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• W2158752749 cites W2122967691 @default.
• W2158752749 cites W2126427549 @default.
• W2158752749 cites W2126526368 @default.
• W2158752749 cites W2128865876 @default.
• W2158752749 cites W2129504839 @default.
• W2158752749 cites W2136181737 @default.
• W2158752749 cites W2137632714 @default.
• W2158752749 cites W2138512826 @default.
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• W2158752749 doi "https://doi.org/10.1186/1750-1172-7-39" @default.
• W2158752749 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3458970" @default.
• W2158752749 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22704758" @default.
• W2158752749 hasPublicationYear "2012" @default.
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