[article]
| Titre : |
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders |
| Type de document : |
texte imprimé |
| Auteurs : |
Anne B. ARNETT, Auteur ; Tianyun WANG, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Autism Spectrum Disorder/genetics Genomics Humans Intellectual Disability/genetics Molecular Biology Neurodevelopmental Disorders/genetics Excitatory/inhibitory Genetics-first Molecular genetics Neurobiology Neurodevelopmental disorders |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms. MAIN BODY: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the development of publicly available transcriptomic databases, cell type-specific research methods, and sequencing of non-coding genomic regions. CONCLUSIONS: The genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-021-09371-4 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 |
in Journal of Neurodevelopmental Disorders > 13 (2021)
[article] Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders [texte imprimé] / Anne B. ARNETT, Auteur ; Tianyun WANG, Auteur ; Evan E. EICHLER, Auteur ; Raphael A. BERNIER, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 13 (2021)
| Mots-clés : |
Autism Spectrum Disorder/genetics Genomics Humans Intellectual Disability/genetics Molecular Biology Neurodevelopmental Disorders/genetics Excitatory/inhibitory Genetics-first Molecular genetics Neurobiology Neurodevelopmental disorders |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms. MAIN BODY: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the development of publicly available transcriptomic databases, cell type-specific research methods, and sequencing of non-coding genomic regions. CONCLUSIONS: The genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-021-09371-4 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 |
|  |
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders in Journal of Neurodevelopmental Disorders, 13 (2021)
