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Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

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dc.contributor.authorCommission on Novel Technologies for Neurodevelopmental Copy Number Variants
dc.date.accessioned2023-03-31T15:36:19Z
dc.date.available2023-03-31T15:36:19Z
dc.date.issued2022
dc.description.abstractCopy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs can be extensive and provides a motivation for shared approaches. This confluence at the level of clinical phenotype implies convergence in at least some aspects of the underlying genomic mechanisms. With this perspective, our Commission on Novel Technologies for Neurodevelopmental CNVs asserts that the time has arrived to approach neurodevelopmental-related CNVs/SVs as a class of disorders that can be identified, investigated, and treated on the basis of shared mechanisms and/or pathways (e.g., molecular, neurological, or developmental). To identify common etiologic mechanisms among uncommon neurodevelopmental-related disorders and to potentially identify common therapies, it is paramount for teams of scientists, clinicians, and patients to unite their efforts. We bring forward novel, collaborative, and integrative strategies to translational CNV/SV research that engages diverse stakeholders to help expedite therapeutic outcomes. We articulate a clear vision for piloted roadmap strategies to reduce patient/caregiver burden and redundancies, increase efficiency, avoid siloed data, and accelerate translational discovery across CNV/SV-based syndromes.
dc.description.versionVersión publicada
dc.identifier.citationCommission on Novel Technologies for Neurodevelopmental Copy Number Variants. Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. Am J Hum Genet. 2022 Aug 4;109(8):1353-1365. doi: 10.1016/j.ajhg.2022.07.003
dc.identifier.doihttps://doi.org/10.1016/j.ajhg.2022.07.003
dc.identifier.urihttps://repositorio.udd.cl/handle/11447/7218
dc.language.isoen
dc.subjectDNA Copy Number Variations
dc.subjectGenetics
dc.subjectGenome
dc.subjectNeurodevelopmental Disorders / genetics
dc.subjectPhenotype
dc.subjectNeurodevelopmental Disorders / therapy
dc.subjectPatient Advocacy
dc.titleNeurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourceAmerican journal of human genetics
dspace.entity.typePublication

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