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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.
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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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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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Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
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Developmental implications of genetic testing for physical indications.

Danielle A Baribeau1,2,3, Ny Hoang4,5,6, Thanuja Selvanayagam4,6

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Genetic testing for physical health in children often reveals risks for neurodevelopmental disorders. Over half of diagnostic results showed links to conditions like autism or intellectual disability.

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Area of Science:

  • Pediatric Genetics
  • Neurodevelopmental Disorders
  • Clinical Diagnostics

Background:

  • Genetic testing is crucial for diagnosing physical and congenital health issues in children.
  • Understanding the broader implications of these tests is essential for comprehensive care.

Purpose of the Study:

  • To determine the frequency of neurodevelopmental disorder associations in genetic tests ordered for physical health concerns in pediatric patients.
  • To highlight the clinical utility of genetic testing beyond initial physical indications.

Main Methods:

  • Analysis of 3056 genetic tests (chromosomal microarrays and next-generation sequencing panels) from children with physical health problems.
  • Manual review of pathogenic/likely pathogenic variants for diagnostic likelihood and association with neurodevelopmental disorders (e.g., autism, intellectual disability).

Main Results:

  • 10% of chromosomal microarrays and 17% of next-generation sequencing panels yielded diagnostic results.
  • Over 52% of all diagnostic genetic tests revealed established evidence of neurodevelopmental disorder associations.

Conclusions:

  • Genetic tests ordered for physical/congenital conditions frequently identify risks for neurodevelopmental disorders.
  • There is an increasing need for integrated genetics-first developmental care pathways in pediatrics.