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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
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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.
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Autism Spectrum Disorder01:19

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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.
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Human Genetics01:28

Human Genetics

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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.
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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
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Genetic Studies in Autism.

Shruthi Sudarshan1, Neerja Gupta2, Madhulika Kabra1

  • 1Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

Indian Journal of Pediatrics
|March 4, 2016
PubMed
Summary
This summary is machine-generated.

Parents face a challenging diagnostic journey for Autism Spectrum Disorders (ASDs). This chapter explores genetic causes and their role in evaluating children with ASDs, aiding future family planning.

Keywords:
AutismAutism spectrum disordersChromosomal microarrayCopy number variationsGeneticsNext generation sequencing

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Area of Science:

  • Neurodevelopmental disorders
  • Clinical genetics
  • Pediatric diagnostics

Background:

  • Autism Spectrum Disorders (ASDs) present a complex diagnostic challenge for parents and clinicians.
  • The current diagnostic odyssey for ASDs often involves extensive testing with limited diagnostic yield.
  • Increased referrals to clinical geneticists aim to identify potential genetic etiologies for ASDs.

Purpose of the Study:

  • To focus on the various genetic causes of Autism Spectrum Disorders (ASDs).
  • To discuss the appropriate application of genetic evaluations in children diagnosed with ASDs.
  • To provide insights for parents regarding genetic implications for future pregnancies.

Main Methods:

  • Review of current literature on genetic etiologies of ASDs.
  • Analysis of diagnostic approaches in pediatric genetics for ASDs.
  • Discussion of genetic testing strategies and their yield.

Main Results:

  • Identification of key genetic factors associated with ASDs.
  • Evaluation of the utility of genetic testing in the diagnostic process.
  • Understanding the implications of genetic findings for family counseling.

Conclusions:

  • Genetic factors play a significant role in the etiology of ASDs.
  • Genetic evaluation is a crucial component in the comprehensive assessment of children with ASDs.
  • Genetic insights can inform recurrence risk and family planning for parents.