Molecular subtyping and improved treatment of neurodevelopmental disease
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The next-generation sequencing revolution has substantially increased our understanding of the mutated genes that underlie complex neurodevelopmental disease. Exome sequencing has enabled us to estimate the number of genes involved in the etiology of neurodevelopmental disease, whereas targeted sequencing approaches have provided the means for quick and cost-effective sequencing of thousands of patient samples to assess the significance of individual genes. By leveraging such technologies and clinical exome sequencing, a genotype-first approach has emerged in which patients with a common genotype are first identified and then clinically reassessed as a group. This approach has proven a powerful methodology for refining disease subtypes. We propose that the molecular characterization of these genetic subtypes has important implications for diagnostics and also for future drug development. Classifying patients into subgroups with a common genetic etiology and applying treatments tailored to the specific molecular defect they carry is likely to improve management of neurodevelopmental disease in the future.
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Pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, ID, epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.
“It has also become clear that pathogenic variants in the same genes are identified in individuals with a variety of different clinically defined brain disorders, including ASD, intellectual disability (ID), epilepsy, schizophrenia, and other neurodevelopmental and neuropsychiatric conditions.”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [5]
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Cognitive Disorders Associated with Epilepsy: Diagnosis and Treatment
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Self-citationChromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
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Mutations in ARID2 are associated with intellectual disabilities
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Self-citationExon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy
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Self-citationHaploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
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Flagged first, then by citations
Research works printed but not linked: 1
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Cited by
Sorted by citations
Insufficient Evidence for “Autism-Specific” Genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165 · see citing works
Self-citation
- Authors
- Stessman, H. A. F., Turner, T. N., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Eichler, Evan E.
- Venue
- Genome Medicine
- Published
- 2016-02-25
- Volume
- 8
- Issue
- 1
- Pages
- 22-22
- ISSN
- 1756-994X (ISSN-L)
- PMC
- PMC4766622
- OpenAlex
- W2277635465
- Cited by
- 25
- References
- 105
- Citations by year
- 2026: 1 · 2023: 3 · 2022: 1 · 2021: 1 · 2020: 7 · 2018: 3 · 2017: 6 · 2016: 3
- FWCI
- 3.23
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome Medicine (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Simons Foundation (336475)
- National Institute of Mental Health (R01MH101221)
- National Human Genome Research Institute (T32HG00035)
- Howard Hughes Medical Institute (NA)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- neurodevelopmental disorders, molecular subtyping, genotype-first approach, targeted sequencing, exome sequencing, genetic diagnosis, precision medicine, drug development, disease classification
- MeSH terms
- Genotype, Humans, Genome, Human, Sequence Analysis, DNA, Genetic Predisposition to Disease, Molecular Diagnostic Techniques, High-Throughput Nucleotide Sequencing, Neurodevelopmental Disorders
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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