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Cited by 150Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchEpilepsy research and treatment

Rett Syndrome: Crossing the Threshold to Clinical Translation

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Katz, David M., Bird, Adrian, Coenraads, Monica, Gray, Steven J., Menon, Debashish U., Philpot, Benjamin D., Tarquinio, Daniel C.·2016·Trends in Neurosciences
DOI 10.1016/j.tins.2015.12.008PMC PMC4924590
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Abstract

Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders.

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  • The consequences of MeCP2 dysfunction on neuronal networks have been extensively explored in mice lacking MeCP2 and those with a conditional hemizygous deletion, but the results vary considerably possibly due to differences in the age of the mice in the analysis and the specific characteristics of each cortical area.

    “The consequences of MeCP2 dysfunction on neuronal networks have been extensively explored in mice lacking MeCP2 and those with a conditional hemizygous deletion, but the results vary considerably possibly due to differences in the age of the mice in the analysis (juvenile, young adults and adults) and the specific characteristics of each cortical area 123,124 .”

    From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [123]

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Authors
Katz, D. M., Bird, A., Coenraads, M., Gray, S. J., Menon, D. U., Philpot, B. D., & Tarquinio, D. C.
Affiliations
  • Case Western Reserve University (US)
  • Wellcome Centre for Cell Biology (GB)
  • Rett Syndrome Research Trust (US)
  • University of North Carolina at Chapel Hill (US)
  • Emory University (US)
Corresponding author
Katz, David M.
ORCID
Venue
Trends in Neurosciences
Publisher
Elsevier BV
Published
2016-02
Volume
39
Issue
2
Pages
100-113
ISSN
0166-2236 (ISSN-L)
DOI
10.1016/j.tins.2015.12.008
PMC
PMC4924590
OpenAlex
W2263028779
Cited by
150
References
128
Citations by year
2026: 7 · 2025: 4 · 2024: 11 · 2023: 8 · 2022: 15 · 2021: 14 · 2020: 21 · 2019: 23 · 2018: 15 · 2017: 19 · 2016: 13
FWCI
3.12
Type
journal article
Language
en
Open access
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Trends in Neurosciences (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Wellcome Trust (107930/Z/15/Z, 092076, 091580)
  • National Institute of Mental Health (R01MH093372)
  • National Institute of Neurological Disorders and Stroke (R01NS085093, P30NS045892, R01NS057398, R21NS087132)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD036655)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
Keywords
Rett syndrome, clinical translation, epigenetics, neurobiology, preclinical models, natural history research, rare diseases, clinical trial design, drug development
MeSH terms
Animals, Clinical Trials as Topic, Humans, Mutation, Rett Syndrome, Epigenesis, Genetic, Translational Research, Biomedical

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