The study of monogenic or syndromic forms of Autism Spectrum Disorder (ASD), has been a leading strategy to gain insight into the complex mechanisms of ASD. Fragile X Syndrome (FXS) is one of the most common inherited forms of ASD and intellectual disability (ID). Since the Fragile X gene (FMR1) was cloned in 1991, the field has used cellular assays and model organisms to elucidate the functions of the FMR1 protein (FMRP), the consequences of its loss, and identify therapeutic targets for FXS and ASD. Other syndromic forms of ASD, such as tuberous sclerosis complex, Rett Syndrome, Angelman Syndrome, and others, are being investigated using similar approaches. Recent technological advances in stem-cell derived neurons, single cell sequencing, gene therapy, and novel model organisms as well as clinical trial readiness and biomarker development are setting the stage for transformative advances in therapeutic development for these neurodevelopmental disorders. This special topic issue highlights recent advances from leading scientists and clinicians studying FXS, ASD, and related neurodevelopmental disorders with a goal of identifying the mechanisms that underlie the heterogeneous symptomatology of these disorders and translating this knowledge into clinical trials.
ASD is a complex genetic disorder with heterogeneous etiology. Advances made in understanding monogenic forms of ASD, such as Fragile X and tuberous sclerosis have provided insight into molecular pathways implicated in ASD. While much progress has been made in animal models of ASD, the challenge is to determine and develop strategies to determine the relevance and translation of animal model mechanisms to human physiology and affected individuals. The goal of this special topic is to present a collection of works from leading preclinical and clinical researchers in Fragile X and ASD that provide knowledge of the recent advances in mechanistic understanding of these diseases from animal models, development of human iPSC models of these diseases, and advances in biomarker development for translation to clinical trials.
We anticipate having contributions from basic, preclinical, and clinical researchers in Fragile X, monogenic and other causes of ASD. We invite articles on basic molecular, cellular, and circuit mechanisms of ASD-risk genes, analysis of animal models of ASD, as well as human cellular models. We also invite articles on advances in clinical research in Fragile X and ASD, including drug discovery, biomarker development, and clinical trial readiness. All Article Types are welcome.
The study of monogenic or syndromic forms of Autism Spectrum Disorder (ASD), has been a leading strategy to gain insight into the complex mechanisms of ASD. Fragile X Syndrome (FXS) is one of the most common inherited forms of ASD and intellectual disability (ID). Since the Fragile X gene (FMR1) was cloned in 1991, the field has used cellular assays and model organisms to elucidate the functions of the FMR1 protein (FMRP), the consequences of its loss, and identify therapeutic targets for FXS and ASD. Other syndromic forms of ASD, such as tuberous sclerosis complex, Rett Syndrome, Angelman Syndrome, and others, are being investigated using similar approaches. Recent technological advances in stem-cell derived neurons, single cell sequencing, gene therapy, and novel model organisms as well as clinical trial readiness and biomarker development are setting the stage for transformative advances in therapeutic development for these neurodevelopmental disorders. This special topic issue highlights recent advances from leading scientists and clinicians studying FXS, ASD, and related neurodevelopmental disorders with a goal of identifying the mechanisms that underlie the heterogeneous symptomatology of these disorders and translating this knowledge into clinical trials.
ASD is a complex genetic disorder with heterogeneous etiology. Advances made in understanding monogenic forms of ASD, such as Fragile X and tuberous sclerosis have provided insight into molecular pathways implicated in ASD. While much progress has been made in animal models of ASD, the challenge is to determine and develop strategies to determine the relevance and translation of animal model mechanisms to human physiology and affected individuals. The goal of this special topic is to present a collection of works from leading preclinical and clinical researchers in Fragile X and ASD that provide knowledge of the recent advances in mechanistic understanding of these diseases from animal models, development of human iPSC models of these diseases, and advances in biomarker development for translation to clinical trials.
We anticipate having contributions from basic, preclinical, and clinical researchers in Fragile X, monogenic and other causes of ASD. We invite articles on basic molecular, cellular, and circuit mechanisms of ASD-risk genes, analysis of animal models of ASD, as well as human cellular models. We also invite articles on advances in clinical research in Fragile X and ASD, including drug discovery, biomarker development, and clinical trial readiness. All Article Types are welcome.
