Publications by authors named "John J Suk"
Article Synopsis
- Late-onset retinal degeneration (L-ORD) is a genetic eye condition caused by mutations in the CTRP5 gene, leading to macular dystrophy.
- Researchers created a new mouse model (Ctrp5 knock-out) that lacks the CTRP5 gene to investigate the disease's mechanisms more thoroughly.
- The study found that the absence of CTRP5 caused significant retinal damage and stress, including early cell changes and the buildup of harmful deposits, which supports the idea that CTRP5 is essential for maintaining healthy retinal function.
Article Synopsis
- Patients with homozygous c.498_499insC mutations experience various eye issues like hyperopia, microphthalmia, and retinitis pigmentosa, but some maintain good vision for a long time.
- A genetic mouse model mimicking these mutations showed similar eye characteristics as humans, such as reduced eye length and retinal degeneration, along with worse refractive error than typical mice.
- Gene therapy using a specific virus helped improve retinal health and function in these mice, suggesting a potential treatment for human patients with similar eye conditions.
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Genet Test Mol Biomarkers
February 2017
Aim: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD).
Methods: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory.
Article Synopsis
- More than 250 genes cause inherited retinal degenerations (IRD), but 40-50% of cases lack known genetic causes, prompting this study to investigate a family using whole genome sequencing (WGS).
- Through a series of clinical evaluations, WGS revealed around 4 million variants per individual, leading to the identification of two rare variants in the AGBL5 gene linked to adolescent-onset recessive retinitis pigmentosa (arRP).
- The study not only pinpointed the mutations responsible for IRD in this family but also validated a novel filtering approach for analyzing genomic data.