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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Incomplete Dominance01:43

Incomplete Dominance

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.
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Genetic Screens02:46

Genetic Screens

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.
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Cohesins02:20

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Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
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Human Genetics01:28

Human Genetics

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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Related Experiment Video

Updated: May 14, 2026

Full-Field Optical Coherence Microscopy for Histology-Like Analysis of Stromal Features in Corneal Grafts
07:51

Full-Field Optical Coherence Microscopy for Histology-Like Analysis of Stromal Features in Corneal Grafts

Published on: October 21, 2022

Insights into keratoconus from a genetic perspective.

Kathryn P Burdon1, Andrea L Vincent

  • 1Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.

Clinical & Experimental Optometry
|February 8, 2013
PubMed
Summary

Genetic research is uncovering the complex causes of keratoconus, a progressive eye condition. Identifying specific genes like VSX1, MIR184, and DOCK9 helps understand its molecular basis and develop targeted treatments.

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Published on: November 12, 2015

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Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis
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Three Different Protocols of Corneal Collagen Crosslinking in Keratoconus: Conventional, Accelerated and Iontophoresis

Published on: November 12, 2015

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Keratoconus is a progressive corneal disease causing visual impairment.
  • Its etiology is complex, involving both genetic and environmental factors.
  • Previous research identified a genetic component through family and twin studies.

Purpose of the Study:

  • To review recent advancements in identifying genetic risk factors for keratoconus.
  • To highlight key genes and genetic variations associated with the disease.
  • To understand the molecular underpinnings of keratoconus.

Main Methods:

  • Review of candidate gene studies.
  • Analysis of genome-wide association studies (GWAS).
  • Examination of family-based linkage studies.

Main Results:

  • VSX1 is a well-characterized gene, but accounts for rare cases.
  • New genes identified include MIR184 (with cataract) and DOCK9 (isolated keratoconus).
  • GWAS identified risk variations in HGF, RAB3GAP1, and LOX.

Conclusions:

  • Significant progress has been made in identifying keratoconus genes.
  • These discoveries are illuminating the molecular etiology of keratoconus.
  • Further research is needed to identify remaining genetic risk factors.