Neurodevelopmental Disorders (NDDs) are defined as a group of conditions with onset in the developmental period, inducing deficits that produce impairments of functioning. NDDs comprise intellectual disability (ID), communication disorders, autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), neurodevelopmental motor disorders, and specific learning disorders. NDDs are characterized by genetic heterogeneity and clinical variability. Genotype-phenotype correlations are challenging due to multiple genetic and environmental factors that influence the phenotypic outcome. Several pathways have been associated with NDDs, such as the mTOR pathway and others, and understanding the molecular mechanism behind NDDs has the potential to define druggable targets, making in-vitro and in-vivo disease models fundamental tools for advancing the research on this topic.
The genetic and clinical heterogeneity of NDDs, the difficulty of recruiting subjects with specific phenotypes, the unavailability of neural tissues for detailed analysis, and the lack of disease-specific cellular and animal models have hampered detailed comprehension of NDDs, posing a significant challenge to the medical and scientific community until a few decades ago. In the last 20 years, the scientific community has been focusing on investigating the neurobiological basis and mechanisms behind NDDs, trying to develop effective intervention tools. The recent availability of cellular models like iPSCs and the generation of animal models of NDDs - either by introducing relevant genetic mutations or perturbing the external environment - has allowed for a deeper and better understanding of the molecular and cellular mechanisms that are disrupted in these disorders. Studies performed using in-vitro and in-vivo models have significantly contributed to formulating working hypotheses about the onset, and progression and could help identify future treatments for NDDs.
The aim of this Research Topic would be to contribute to and expand the knowledge about in-vitro and in-vivo modeling for neurodevelopmental disorders, spanning from iPSCs to all possible animal models, providing scientists with a useful collection of recent updates and advance in the field. We welcome the submission of Original Research, Brief Research Reports, Reviews, and Case Reports. Topics of interest include but are not limited to: - in-vitro and in-vivo models for Hereditary Spastic Paraplegia - in-vitro and in-vivo models for Epilepsy - in-vitro and in-vivo models for autism spectrum disorders - contribution of organisms modeling for potential therapies in NDDs - new techniques/methods for organisms modeling and validation in NDDs.
Topic Editor Darius Ebrahimi-Fakhar received financial support through a joint research agreement with Astellas Pharmaceuticals Inc. The other Topic Editors declare no competing interests with regard to the Research Topic subject.
Neurodevelopmental Disorders (NDDs) are defined as a group of conditions with onset in the developmental period, inducing deficits that produce impairments of functioning. NDDs comprise intellectual disability (ID), communication disorders, autism spectrum disorders (ASD), attention-deficit/hyperactivity disorder (ADHD), neurodevelopmental motor disorders, and specific learning disorders. NDDs are characterized by genetic heterogeneity and clinical variability. Genotype-phenotype correlations are challenging due to multiple genetic and environmental factors that influence the phenotypic outcome. Several pathways have been associated with NDDs, such as the mTOR pathway and others, and understanding the molecular mechanism behind NDDs has the potential to define druggable targets, making in-vitro and in-vivo disease models fundamental tools for advancing the research on this topic.
The genetic and clinical heterogeneity of NDDs, the difficulty of recruiting subjects with specific phenotypes, the unavailability of neural tissues for detailed analysis, and the lack of disease-specific cellular and animal models have hampered detailed comprehension of NDDs, posing a significant challenge to the medical and scientific community until a few decades ago. In the last 20 years, the scientific community has been focusing on investigating the neurobiological basis and mechanisms behind NDDs, trying to develop effective intervention tools. The recent availability of cellular models like iPSCs and the generation of animal models of NDDs - either by introducing relevant genetic mutations or perturbing the external environment - has allowed for a deeper and better understanding of the molecular and cellular mechanisms that are disrupted in these disorders. Studies performed using in-vitro and in-vivo models have significantly contributed to formulating working hypotheses about the onset, and progression and could help identify future treatments for NDDs.
The aim of this Research Topic would be to contribute to and expand the knowledge about in-vitro and in-vivo modeling for neurodevelopmental disorders, spanning from iPSCs to all possible animal models, providing scientists with a useful collection of recent updates and advance in the field. We welcome the submission of Original Research, Brief Research Reports, Reviews, and Case Reports. Topics of interest include but are not limited to: - in-vitro and in-vivo models for Hereditary Spastic Paraplegia - in-vitro and in-vivo models for Epilepsy - in-vitro and in-vivo models for autism spectrum disorders - contribution of organisms modeling for potential therapies in NDDs - new techniques/methods for organisms modeling and validation in NDDs.
Topic Editor Darius Ebrahimi-Fakhar received financial support through a joint research agreement with Astellas Pharmaceuticals Inc. The other Topic Editors declare no competing interests with regard to the Research Topic subject.