Related Experiment Video
Updated: Jun 6, 2025
08:30
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
1.5K
A Genetic Bridge Between Medicine and Neurodiversity for Autism
Claire S Leblond1, Thomas Rolland1, Eli Barthome1
1Human Genetics and Cognitive Functions, Institut Pasteur, CNRS UMR3571, Institut Universitaire de France, Université Paris Cité, Paris, France;
Annual Review of Genetics
|November 25, 2024
Summary
Autism
Area of Science:
- Genetics
- Neuroscience
- Developmental Psychology
Background:
- Autism Spectrum Disorder (ASD) presents a wide range of phenotypes.
- Genetic factors in ASD range from single, high-impact variants to numerous common variants.
Purpose of the Study:
- To explore the genetic heterogeneity in autism.
- To bridge biomedical and neurodiversity perspectives on autism.
Main Methods:
- Analysis of genetic architectures in autistic individuals.
- Review of genetic variant impacts on phenotype and neurodevelopment.
Main Results:
- Large-impact variants found in up to 30% of autistic individuals with intellectual disability, speech/motor delays, or seizures.
- Common variants overlap with attention-deficit/hyperactivity disorder and major depressive disorder, indicating shared genetic influences.
- Genetic variants affect chromatin remodeling and synaptic proteins, influencing neural circuit connectivity.
Conclusions:
- Genetic heterogeneity in autism mirrors phenotypic diversity.
- Understanding genetic underpinnings can inform personalized assessments, treatments, and accommodations.
- Participative, multidisciplinary research is crucial for supporting autistic individuals and families.
Related Concept Videos
01:28Human Genetics
535
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
535
01:19Autism Spectrum Disorder
64
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
64
00:49What is Genetic Engineering?
73.6K
Overview
73.6K
01:23Behavioral Genetics and Its Designs
329
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
329
01:29Microorganisms in Medicine and Therapeutics
1
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
1
01:59CRISPR
49.5K
Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
49.5K