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Toward Individualized Treatments for Neurodevelopmental Disorders Targeting Metabotropic Glutamate Receptor (mGluR) Genes Impacted by Copy Number Variants

Author

Listed:
  • Hain HS
  • Connolly JJ

    (Abramson Research Center, Children’s Hospital of Philadelphia, USA)

  • Glessner JT

    (Department of Pediatrics, University of Pennsylvania, USA)

  • Elia J

    (Nemours, du Pont Hospital for Children, USA)

  • Hakonarson H

    (Division of Human Genetics, Children’s Hospital of Philadelphia, USA)

Abstract

Development of novel therapeutics for neurodevelopmental and neuropsychiatric disorders has long been hampered by heterogeneity among phenotypes, and a lack of understanding of the molecular etiology of relevant disorders. Data from genomic studies, including copy number variants (CNVs) can give us insight into mechanisms and possible treatment targets. Studies from our group and others have identified rare disease-associated CNVs in metabotropic glutamatergic receptor (mGluR) genes in attention deficit hyperactivity disorder (ADHD), autism, and other neuropsychiatric disorders. These studies indicate that a sub-cohort of respective disease populations may be defined by genomic markers, and may respond preferentially to individualize treatment-in this case by targeting the mGluR network. We review relevant studies, including a recent clinical trial, with the objective of delineating potential next steps in translational development.

Suggested Citation

  • Hain HS & Connolly JJ & Glessner JT & Elia J & Hakonarson H, 2018. "Toward Individualized Treatments for Neurodevelopmental Disorders Targeting Metabotropic Glutamate Receptor (mGluR) Genes Impacted by Copy Number Variants," Open Access Journal of Neurology & Neurosurgery, Juniper Publishers Inc., vol. 8(2), pages 37-42, August.
    • Handle: RePEc:adp:joajnn:v:8:y:2018:i:2:p:37-42
    DOI: 10.19080/OAJNN.2018.08.555735
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    References listed on IDEAS

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    1. Josephine Elia & Grace Ungal & Charlly Kao & Alexander Ambrosini & Nilsa Jesus-Rosario & Lene Larsen & Rosetta Chiavacci & Tiancheng Wang & Christine Kurian & Kanani Titchen & Brian Sykes & Sharon Hwa, 2018. "Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling," Nature Communications, Nature, vol. 9(1), pages 1-9, December.
    2. Benjamin D. Auerbach & Emily K. Osterweil & Mark F. Bear, 2011. "Mutations causing syndromic autism define an axis of synaptic pathophysiology," Nature, Nature, vol. 480(7375), pages 63-68, December.
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