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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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.
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Human Genetics01:28

Human Genetics

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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Updated: May 14, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
08:30

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

Genomics and autism spectrum disorder.

Norah L Johnson1, Ellen Giarelli, Celine Lewis

  • 1Marquette University College of Nursing, Milwaukee, WI 53201, USA. norah.johnson@marquette.edu

Journal of Nursing Scholarship : an Official Publication of Sigma Theta Tau International Honor Society of Nursing
|February 2, 2013
PubMed
Summary

Genetics and genomics research reveals complex causes for autism spectrum disorder (ASD). Understanding these genetic and environmental interactions is crucial for early identification and intervention in children with ASD.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Last Updated: May 14, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
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Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

  • Genetics and genomics
  • Autism Spectrum Disorder (ASD) research
  • Gene-environment interactions

Background:

  • Autism Spectrum Disorder (ASD) presents a significant global health challenge.
  • Advances in genetics and genomics are improving our understanding of ASD.
  • The complexity of ASD necessitates a multidisciplinary approach to research and care.

Purpose of the Study:

  • To review the current evidence on translating genetics and genomics into healthcare for children with ASD.
  • To highlight the role of nursing in ASD research, education, and practice.
  • To discuss the challenges and opportunities in diagnosing and intervening in ASD.

Main Methods:

  • Overview of ASD as an international health issue.
  • Exploration of emerging science related to diagnostic criteria for ASD.
  • Discussion of the nurse's role in ASD research, education, and practice.

Main Results:

  • Significant progress has been made in understanding the genetics and genomics of ASD.
  • Environmental factors interact with genes, suggesting heterogeneous causes for ASD.
  • Defining the ASD phenotype is challenging due to changing criteria and complex features.
  • Researchers are seeking biomarkers for early ASD detection, complicated by multiple causal pathways.

Conclusions:

  • Current genetic and genomic research emphasizes the intricate and not fully understood causes of ASD.
  • Nurses play a vital role in supporting families with ASD through early identification, diagnosis, and advocacy.
  • New knowledge in genetics and genomics can empower nurses to promote optimal health outcomes for children with ASD and their families.