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10.1186/s13023-017-0614-4 http://scihub22266oqcxt.onion/10.1186/s13023-017-0614-4 C5392956!5392956!28412959     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Orphanet+J+Rare+Dis 2017 ; 12 (ä): ä Nephropedia Template TP {{tp|p=28412959|t=2017. Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery |pdf=|usr=}}{{28412959}} gab.com Text Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=28412959 #FOAvip Background: Advances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging. In fact, when we systematically analyze the US FDA orphan drug list, we find that only 8% of rare diseases have an FDA-designated drug. Our approach leverages three primary insights: first, diseases with gain-of-function mutations and late onset are more likely to have drug options; second, drugs are more often inhibitors than activators; and third, some disease-causing proteins can be rescued by allosteric activators in diseases due to loss-of-function mutations. Results: We have developed a pipeline that combines natural language processing and human curation to mine promising targets for drug development from the Online Mendelian Inheritance in Man (OMIM) database. This pipeline targets diseases caused by well-characterized gain-of-function mutations or loss-of-function proteins with known allosteric activators. Applying this pipeline across thousands of rare genetic diseases, we discover 34 rare genetic diseases that are promising candidates for drug development. Conclusion: Our analysis has revealed uneven coverage of rare diseases in the current US FDA orphan drug space. Diseases with gain-of-function mutations or loss-of-function mutations and known allosteric activators should be prioritized for drug treatments. Electronic supplementary material: The online version of this article (doi:10.1186/s13023-017-0614-4) contains supplementary material, which is available to authorized users. Twit Text FOAVip Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=28412959 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28412959 #FOAvip English Wikipedia <ref>{{Cite pmid|28412959}}</ref> Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery #MMPMID28412959 Chen B; Altman RB Orphanet J Rare Dis 2017[]; 12 (ä): ä PMID28412959show ga Background: Advances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging. In fact, when we systematically analyze the US FDA orphan drug list, we find that only 8% of rare diseases have an FDA-designated drug. Our approach leverages three primary insights: first, diseases with gain-of-function mutations and late onset are more likely to have drug options; second, drugs are more often inhibitors than activators; and third, some disease-causing proteins can be rescued by allosteric activators in diseases due to loss-of-function mutations. Results: We have developed a pipeline that combines natural language processing and human curation to mine promising targets for drug development from the Online Mendelian Inheritance in Man (OMIM) database. This pipeline targets diseases caused by well-characterized gain-of-function mutations or loss-of-function proteins with known allosteric activators. Applying this pipeline across thousands of rare genetic diseases, we discover 34 rare genetic diseases that are promising candidates for drug development. Conclusion: Our analysis has revealed uneven coverage of rare diseases in the current US FDA orphan drug space. Diseases with gain-of-function mutations or loss-of-function mutations and known allosteric activators should be prioritized for drug treatments. Electronic supplementary material: The online version of this article (doi:10.1186/s13023-017-0614-4) contains supplementary material, which is available to authorized users. äOpportunities for developing therapies for rare genetic diseases: focu(epmc).pdf DeepDyve Pubget Overpricing