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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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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.
GWAS does not require the identification of the target gene involved in...
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Auditory Pathway01:15

Auditory Pathway

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Auditory pathways constitute the complex neural circuits responsible for transmitting and interpreting auditory information from the peripheral auditory system to the brain. Sound waves are initially captured by the outer ear, funneled through the ear canal, and reach the tympanic membrane (eardrum). These vibrations are transmitted via the middle ear's ossicles to the inner ear's cochlea.
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking...
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Hearing01:31

Hearing

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When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
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Auditory Perception01:17

Auditory Perception

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The auditory system is essential for sound perception, utilizing various critical structures. When sound waves enter the outer ear, they travel through the ear canal and cause the eardrum to vibrate. These vibrations are then transmitted to the middle ear, where three tiny bones – the malleus, incus, and stapes – amplify the sound. This amplification is crucial, as it ensures that the sound vibrations are strong enough to be conveyed to the inner ear. These vibrations then reach the...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

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Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice
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The Genomics of Auditory Function and Disease.

Shahar Taiber1, Kathleen Gwilliam2, Ronna Hertzano2,3,4

  • 1Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; email: taiber8@gmail.com, karena@tauex.tau.ac.il.

Annual Review of Genomics and Human Genetics
|June 6, 2022
PubMed
Summary

Nearly half a billion people experience hearing loss globally. Advances in genomics, epigenetics, and gene therapy offer new hope for understanding, diagnosing, and treating auditory dysfunction.

Keywords:
deafnessepigeneticsgene therapygenomicshearing lossregeneration

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Area of Science:

  • Genetics and Molecular Biology
  • Otolaryngology
  • Regenerative Medicine

Background:

  • Hearing loss affects nearly 500 million people worldwide, with significant health and socioeconomic impacts.
  • Identifying genetic and environmental factors is crucial for prevention, rehabilitation, and therapeutic development.
  • Genomic, transcriptomic, and epigenomic studies are advancing our understanding of inner ear development and function.

Purpose of the Study:

  • To review recent advancements in the genomics of auditory function and dysfunction.
  • To highlight progress in patient diagnostics, epigenetics, and gene therapy for hearing loss.
  • To discuss the translation of preclinical gene therapy successes into clinical applications.

Main Methods:

  • Genomic sequencing to identify genes associated with hearing loss.
  • Transcriptome and epigenome analysis of the inner ear.
  • Review of preclinical and clinical gene delivery studies using viral vectors.

Main Results:

  • Discovery of numerous genes linked to hearing loss through genomic studies.
  • Characterization of key molecular regulators and pathways in inner ear development.
  • Demonstration of preclinical efficacy for gene therapy in animal models.

Conclusions:

  • Genomic insights are crucial for diagnosing and understanding hearing loss.
  • Epigenetic studies reveal regulatory mechanisms relevant to inner ear biology.
  • Gene therapy holds significant promise for future clinical treatments of hearing loss.