Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

112.8K
Overview
112.8K
Human Genetics01:28

Human Genetics

1.2K
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...
1.2K
Genomics02:02

Genomics

39.2K
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...
39.2K
Genetic Variation01:25

Genetic Variation

1.1K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.1K
Incomplete Dominance01:43

Incomplete Dominance

29.2K
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.
29.2K
Genetic Screens02:46

Genetic Screens

5.4K
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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.

European journal of human genetics : EJHG·2025
Same author

Variants in NR6A1 cause a novel oculo vertebral renal syndrome.

Nature communications·2025
Same author

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium.

bioRxiv : the preprint server for biology·2025
Same author

Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.

Human mutation·2025
Same author

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

medRxiv : the preprint server for health sciences·2025
Same author

Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy.

Eye (London, England)·2024

Related Experiment Video

Updated: Dec 9, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.6K

Ocular genetics in the genomics age.

Michael A Walter1, Tayebeh Rezaie2, Robert B Hufnagel3

  • 1Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|September 8, 2020
PubMed
Summary
This summary is machine-generated.

Genetic screening for inherited eye diseases often misses diagnoses. This review explores methods to uncover the "missing heritability" by examining intronic, intergenic, and complex genetic factors.

Keywords:
enhancerregulatoryvariant

More Related Videos

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.0K
Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

2.3K

Related Experiment Videos

Last Updated: Dec 9, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.6K
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.0K
Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

2.3K

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Current genetic screening for inherited eye diseases primarily targets coding exons of known genes, yielding variable diagnostic rates.
  • A significant portion of heritability in these cases remains unexplained, termed 'missing heritability'.
  • Explanations include variants in non-coding regions, undiscovered genes, technological limitations, and complex inheritance patterns.

Purpose of the Study:

  • To review and explore methods for investigating the sources of missing heritability in inherited eye diseases.
  • To provide a comprehensive overview of current challenges and future directions in genetic diagnostics for ocular disorders.

Main Methods:

  • Review of existing literature on genetic screening for inherited eye diseases.
  • Exploration of various genetic variants (intronic, intergenic, structural) and their detection.
  • Discussion of complex inheritance patterns and non-genetic phenocopies.

Main Results:

  • Current methods often fail to detect variants in non-coding regions, outside targeted gene panels, or complex genetic interactions.
  • Undetected variants within relevant genes (intronic, up/down-stream, structural) are significant contributors to missing heritability.
  • Variants in un-targeted genes, intergenic regions, and complex/non-Mendelian inheritance also account for unexplained cases.

Conclusions:

  • Expanding genetic analysis beyond coding exons is crucial for improving diagnostic rates in inherited eye diseases.
  • Investigating intronic, intergenic, and structural variants, alongside complex inheritance, is essential to resolve missing heritability.
  • Further research into novel detection methods and a broader understanding of genetic architecture are needed for comprehensive diagnosis.