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Related Concept Videos

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.
The complex relationship between genetics and psychology is observable through common biological components such...
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Biological Causes of Schizophrenia01:29

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Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Behavioral Genetics and Its Designs01:23

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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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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Genome-wide Association Studies-GWAS01:11

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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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Related Experiment Video

Updated: Feb 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Mapping a shared genetic basis for neurodevelopmental disorders.

Matthew Jensen1, Santhosh Girirajan2,3,4

  • 1Bioinformatics and Genomics Graduate Program, The Huck Institutes of Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.

Genome Medicine
|December 16, 2017
PubMed
Summary

A study found a chromosome 9p24.3 duplication, including DOCK8 and KANK1 genes, in individuals with neurodevelopmental disorders. This discovery aids in understanding shared genetic causes and developing treatments for multiple related conditions.

Keywords:
Causative variantsComplex diseaseCopy number variantsGene discoveryModifiersNeurodevelopmental disorders

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • Distinct neurodevelopmental disorders often share common genetic underpinnings, leading to high comorbidity.
  • Identifying shared genetic factors is crucial for understanding disease mechanisms and developing effective treatments.

Purpose of the Study:

  • To identify copy number variants (CNVs) associated with five distinct neurodevelopmental disorders.
  • To uncover common genetic etiologies and potential therapeutic targets across these disorders.

Main Methods:

  • Genome-wide analysis of copy number variations (CNVs) across a cohort with five neurodevelopmental disorders.
  • Statistical analysis to detect enrichment of specific genetic variants in affected individuals.

Main Results:

  • An enrichment of chromosome 9p24.3 duplication was detected in individuals with neurodevelopmental disorders.
  • This duplication encompasses the DOCK8 and KANK1 genes, suggesting their involvement in neurodevelopmental pathways.

Conclusions:

  • Chromosome 9p24.3 duplication, including DOCK8 and KANK1, represents a potential common genetic factor in neurodevelopmental disorders.
  • Large-scale genomic studies are vital for identifying causative and modifier loci, paving the way for targeted multi-disorder therapies.