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Related Concept Videos

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.
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 result in visible changes...
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...

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Immune checkpoint inhibitor therapy for treatment of periocular Merkel cell carcinoma: A systematic review of clinical outcomes and safety.

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RETRACTED: Zito Marino et al. AXL and MET Tyrosine Kinase Receptors Co-Expression as a Potential Therapeutic Target in Malignant Pleural Mesothelioma. <i>J. Pers. Med.</i> 2022, <i>12</i>, 1993.

Journal of personalized medicine·2026
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Correction: Rao et al. Ensemble Deep-Learning-Based Prognostic and Prediction for Recurrence of Sporadic Odontogenic Keratocysts on Hematoxylin and Eosin Stained Pathological Images of Incisional Biopsies. <i>J. Pers. Med.</i> 2022, <i>12</i>, 1220.

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Related Experiment Video

Updated: Jun 26, 2026

Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
07:43

Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model

Published on: August 5, 2021

Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.

Sujin Kang1, Byron L Lam1, Winston Lee1

  • 1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA.

Journal of Personalized Medicine
|June 25, 2026
PubMed
Summary
This summary is machine-generated.

Genetic testing for inherited retinal diseases (IRDs) has advanced significantly, improving diagnosis and enabling gene-directed therapies. Challenges in cost, access, and variant interpretation persist, but new technologies promise further progress.

Keywords:
artificial intelligencegenetic testinginherited retinal diseasenext-generation sequencingpanel-based sequencingprecision medicinewhole-exome sequencingwhole-genome sequencing

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A Rhodopsin Transport Assay by High-Content Imaging Analysis
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A Rhodopsin Transport Assay by High-Content Imaging Analysis

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Last Updated: Jun 26, 2026

Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
07:43

Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model

Published on: August 5, 2021

A Rhodopsin Transport Assay by High-Content Imaging Analysis
12:11

A Rhodopsin Transport Assay by High-Content Imaging Analysis

Published on: January 16, 2019

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Diagnostics

Background:

  • Inherited retinal diseases (IRDs) cause significant visual impairment globally, characterized by genetic and phenotypic diversity.
  • Prevalence in the U.S. is nearly 1 in 1000, indicating a substantial disease burden and improved diagnostic capabilities.

Purpose of the Study:

  • To review the evolution of genetic testing methodologies for IRDs.
  • To highlight the impact of advanced sequencing and interpretation frameworks on diagnostic yield.
  • To discuss current barriers and future directions in molecular diagnostics for IRDs.

Main Methods:

  • Review of literature tracing the progression from linkage analysis to next-generation sequencing (NGS) techniques.
  • Examination of phenotype-driven testing and standardized variant interpretation guidelines.
  • Inclusion of advanced techniques like copy number variation detection, transcriptomics, and functional assays.

Main Results:

  • High-throughput NGS, including panel, exome, and genome sequencing, has dramatically increased diagnostic yield.
  • Standardized interpretation frameworks (e.g., ACMG guidelines) enhance accuracy.
  • Molecular confirmation is crucial for accessing gene-directed therapies and clinical trials.

Conclusions:

  • Despite progress, barriers like cost, access, and variant interpretation challenges remain.
  • Emerging technologies (AI, multi-omics) are crucial for bridging molecular and clinical data.
  • Future advancements require improved access, standardized regulations, and integration of new technologies into clinical practice.