Related Experiment Video
Updated: Jun 26, 2026
07:43
Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
Published on: August 5, 2021
Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions
Thanansayan Dhivagaran1, Fahad R Butt1, Krystal Grover2
1Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5C1, Canada.
Journal of Personalized Medicine
|June 25, 2026
Summary
Precision medicine is revolutionizing inherited retinal disease (IRD) diagnosis and treatment through advanced genetic testing. Overcoming challenges like cost and access is key to unlocking the full potential of these innovative therapies for rare eye conditions.
Area of Science:
- Ophthalmology
- Genetics
- Precision Medicine
Background:
- Inherited retinal diseases (IRDs) are rare, heterogeneous genetic conditions.
- Historically diagnosed via clinical presentation and imaging.
- Genetic testing has transformed IRD diagnostics and therapeutics.
Purpose of the Study:
- Review progress and challenges in precision medicine for IRDs.
- Examine how genetic testing advances impact diagnostics and therapies.
- Evaluate patient selection protocols for optimal outcomes.
Main Methods:
- Focus on next-generation sequencing (NGS) for IRD genetic testing.
- Review patient selection combining genetic, structural, and counseling data.
- Literature review of current precision medicine applications.
Main Results:
- NGS significantly improves IRD diagnostic accuracy by identifying specific mutations.
- Targeted therapies, like Luxturna, are emerging for IRDs.
- Barriers include high costs, unequal access, and complex variant interpretation.
Conclusions:
- Innovative therapies offer hope for expanded IRD treatment options.
- Addressing economic, technological, educational, and infrastructural challenges is crucial.
- Harnessing precision medicine potential requires overcoming multifaceted barriers.
Related Concept Videos
01:22iPS Cell Differentiation
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
01:29Pharmacogenomics: 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...