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The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren

There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulting in the need for novel treatment options. Identifying treat...

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Autores principales: Foksinska, Aleksandra, Crowder, Camerron M., Crouse, Andrew B., Henrikson, Jeff, Byrd, William E., Rosenblatt, Gregory, Patton, Michael J., He, Kaiwen, Tran-Nguyen, Thi K., Zheng, Marissa, Ramsey, Stephen A., Amin, Nada, Osborne, John, Might, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562701/
https://www.ncbi.nlm.nih.gov/pubmed/36248623
http://dx.doi.org/10.3389/frai.2022.910216
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author Foksinska, Aleksandra
Crowder, Camerron M.
Crouse, Andrew B.
Henrikson, Jeff
Byrd, William E.
Rosenblatt, Gregory
Patton, Michael J.
He, Kaiwen
Tran-Nguyen, Thi K.
Zheng, Marissa
Ramsey, Stephen A.
Amin, Nada
Osborne, John
Might, Matthew
author_facet Foksinska, Aleksandra
Crowder, Camerron M.
Crouse, Andrew B.
Henrikson, Jeff
Byrd, William E.
Rosenblatt, Gregory
Patton, Michael J.
He, Kaiwen
Tran-Nguyen, Thi K.
Zheng, Marissa
Ramsey, Stephen A.
Amin, Nada
Osborne, John
Might, Matthew
author_sort Foksinska, Aleksandra
collection PubMed
description There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulting in the need for novel treatment options. Identifying treatments for these disorders is challenging due to a limited understanding of disease mechanisms, small cohort sizes, interindividual symptom variability, and little commercial incentive to develop new treatments. A promising avenue for treatment is drug repurposing, where FDA-approved drugs are repositioned as novel treatments. However, linking disease mechanisms to drug action can be extraordinarily difficult and requires a depth of knowledge across multiple fields, which is complicated by the rapid pace of biomedical knowledge discovery. To address these challenges, The Hugh Kaul Precision Medicine Institute developed an artificial intelligence tool, mediKanren, that leverages the mechanistic insight of genetic disorders to identify therapeutic options. Using knowledge graphs, mediKanren enables an efficient way to link all relevant literature and databases. This tool has allowed for a scalable process that has been used to help over 500 rare disease families. Here, we provide a description of our process, the advantages of mediKanren, and its impact on rare disease patients.
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spelling pubmed-95627012022-10-15 The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren Foksinska, Aleksandra Crowder, Camerron M. Crouse, Andrew B. Henrikson, Jeff Byrd, William E. Rosenblatt, Gregory Patton, Michael J. He, Kaiwen Tran-Nguyen, Thi K. Zheng, Marissa Ramsey, Stephen A. Amin, Nada Osborne, John Might, Matthew Front Artif Intell Artificial Intelligence There are over 6,000 different rare diseases estimated to impact 300 million people worldwide. As genetic testing becomes more common practice in the clinical setting, the number of rare disease diagnoses will continue to increase, resulting in the need for novel treatment options. Identifying treatments for these disorders is challenging due to a limited understanding of disease mechanisms, small cohort sizes, interindividual symptom variability, and little commercial incentive to develop new treatments. A promising avenue for treatment is drug repurposing, where FDA-approved drugs are repositioned as novel treatments. However, linking disease mechanisms to drug action can be extraordinarily difficult and requires a depth of knowledge across multiple fields, which is complicated by the rapid pace of biomedical knowledge discovery. To address these challenges, The Hugh Kaul Precision Medicine Institute developed an artificial intelligence tool, mediKanren, that leverages the mechanistic insight of genetic disorders to identify therapeutic options. Using knowledge graphs, mediKanren enables an efficient way to link all relevant literature and databases. This tool has allowed for a scalable process that has been used to help over 500 rare disease families. Here, we provide a description of our process, the advantages of mediKanren, and its impact on rare disease patients. Frontiers Media S.A. 2022-09-30 /pmc/articles/PMC9562701/ /pubmed/36248623 http://dx.doi.org/10.3389/frai.2022.910216 Text en Copyright © 2022 Foksinska, Crowder, Crouse, Henrikson, Byrd, Rosenblatt, Patton, He, Tran-Nguyen, Zheng, Ramsey, Amin, Osborne, UAB Precision Medicine Institute and Might. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Artificial Intelligence
Foksinska, Aleksandra
Crowder, Camerron M.
Crouse, Andrew B.
Henrikson, Jeff
Byrd, William E.
Rosenblatt, Gregory
Patton, Michael J.
He, Kaiwen
Tran-Nguyen, Thi K.
Zheng, Marissa
Ramsey, Stephen A.
Amin, Nada
Osborne, John
Might, Matthew
The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
title The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
title_full The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
title_fullStr The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
title_full_unstemmed The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
title_short The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren
title_sort precision medicine process for treating rare disease using the artificial intelligence tool medikanren
topic Artificial Intelligence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562701/
https://www.ncbi.nlm.nih.gov/pubmed/36248623
http://dx.doi.org/10.3389/frai.2022.910216
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