Preclinical research in Rett syndrome: setting the foundation for translational success
In September of 2011, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the International Rett Syndrome Foundation (IRSF) and the Rett Syndrome Research Trust (RSRT) convened a workshop in...
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| Format: | Article |
| Language: | English |
| Published: |
The Company of Biologists
2012-11-01
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| Series: | Disease Models & Mechanisms |
| Online Access: | http://dmm.biologists.org/content/5/6/733 |
| _version_ | 1818910284384829440 |
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| author | David M. Katz Joanne E. Berger-Sweeney James H. Eubanks Monica J. Justice Jeffrey L. Neul Lucas Pozzo-Miller Mary E. Blue Diana Christian Jacqueline N. Crawley Maurizio Giustetto Jacky Guy C. James Howell Miriam Kron Sacha B. Nelson Rodney C. Samaco Laura R. Schaevitz Coryse St. Hillaire-Clarke Juan L. Young Huda Y. Zoghbi Laura A. Mamounas |
| author_facet | David M. Katz Joanne E. Berger-Sweeney James H. Eubanks Monica J. Justice Jeffrey L. Neul Lucas Pozzo-Miller Mary E. Blue Diana Christian Jacqueline N. Crawley Maurizio Giustetto Jacky Guy C. James Howell Miriam Kron Sacha B. Nelson Rodney C. Samaco Laura R. Schaevitz Coryse St. Hillaire-Clarke Juan L. Young Huda Y. Zoghbi Laura A. Mamounas |
| author_sort | David M. Katz |
| collection | DOAJ |
| description | In September of 2011, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the International Rett Syndrome Foundation (IRSF) and the Rett Syndrome Research Trust (RSRT) convened a workshop involving a broad cross-section of basic scientists, clinicians and representatives from the National Institutes of Health (NIH), the US Food and Drug Administration (FDA), the pharmaceutical industry and private foundations to assess the state of the art in animal studies of Rett syndrome (RTT). The aim of the workshop was to identify crucial knowledge gaps and to suggest scientific priorities and best practices for the use of animal models in preclinical evaluation of potential new RTT therapeutics. This review summarizes outcomes from the workshop and extensive follow-up discussions among participants, and includes: (1) a comprehensive summary of the physiological and behavioral phenotypes of RTT mouse models to date, and areas in which further phenotypic analyses are required to enhance the utility of these models for translational studies; (2) discussion of the impact of genetic differences among mouse models, and methodological differences among laboratories, on the expression and analysis, respectively, of phenotypic traits; and (3) definitions of the standards that the community of RTT researchers can implement for rigorous preclinical study design and transparent reporting to ensure that decisions to initiate costly clinical trials are grounded in reliable preclinical data. |
| first_indexed | 2024-12-19T22:40:22Z |
| format | Article |
| id | doaj.art-e47f996a0ef64ccab86e468a2e1e40e3 |
| institution | Directory Open Access Journal |
| issn | 1754-8403 1754-8411 |
| language | English |
| last_indexed | 2024-12-19T22:40:22Z |
| publishDate | 2012-11-01 |
| publisher | The Company of Biologists |
| record_format | Article |
| series | Disease Models & Mechanisms |
| spelling | doaj.art-e47f996a0ef64ccab86e468a2e1e40e32022-12-21T20:03:05ZengThe Company of BiologistsDisease Models & Mechanisms1754-84031754-84112012-11-015673374510.1242/dmm.011007011007Preclinical research in Rett syndrome: setting the foundation for translational successDavid M. KatzJoanne E. Berger-SweeneyJames H. EubanksMonica J. JusticeJeffrey L. NeulLucas Pozzo-MillerMary E. BlueDiana ChristianJacqueline N. CrawleyMaurizio GiustettoJacky GuyC. James HowellMiriam KronSacha B. NelsonRodney C. SamacoLaura R. SchaevitzCoryse St. Hillaire-ClarkeJuan L. YoungHuda Y. ZoghbiLaura A. MamounasIn September of 2011, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the International Rett Syndrome Foundation (IRSF) and the Rett Syndrome Research Trust (RSRT) convened a workshop involving a broad cross-section of basic scientists, clinicians and representatives from the National Institutes of Health (NIH), the US Food and Drug Administration (FDA), the pharmaceutical industry and private foundations to assess the state of the art in animal studies of Rett syndrome (RTT). The aim of the workshop was to identify crucial knowledge gaps and to suggest scientific priorities and best practices for the use of animal models in preclinical evaluation of potential new RTT therapeutics. This review summarizes outcomes from the workshop and extensive follow-up discussions among participants, and includes: (1) a comprehensive summary of the physiological and behavioral phenotypes of RTT mouse models to date, and areas in which further phenotypic analyses are required to enhance the utility of these models for translational studies; (2) discussion of the impact of genetic differences among mouse models, and methodological differences among laboratories, on the expression and analysis, respectively, of phenotypic traits; and (3) definitions of the standards that the community of RTT researchers can implement for rigorous preclinical study design and transparent reporting to ensure that decisions to initiate costly clinical trials are grounded in reliable preclinical data.http://dmm.biologists.org/content/5/6/733 |
| spellingShingle | David M. Katz Joanne E. Berger-Sweeney James H. Eubanks Monica J. Justice Jeffrey L. Neul Lucas Pozzo-Miller Mary E. Blue Diana Christian Jacqueline N. Crawley Maurizio Giustetto Jacky Guy C. James Howell Miriam Kron Sacha B. Nelson Rodney C. Samaco Laura R. Schaevitz Coryse St. Hillaire-Clarke Juan L. Young Huda Y. Zoghbi Laura A. Mamounas Preclinical research in Rett syndrome: setting the foundation for translational success Disease Models & Mechanisms |
| title | Preclinical research in Rett syndrome: setting the foundation for translational success |
| title_full | Preclinical research in Rett syndrome: setting the foundation for translational success |
| title_fullStr | Preclinical research in Rett syndrome: setting the foundation for translational success |
| title_full_unstemmed | Preclinical research in Rett syndrome: setting the foundation for translational success |
| title_short | Preclinical research in Rett syndrome: setting the foundation for translational success |
| title_sort | preclinical research in rett syndrome setting the foundation for translational success |
| url | http://dmm.biologists.org/content/5/6/733 |
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