Publications by authors named "Seung Won Chae"
Article Synopsis
- Ectodermal dysplasia (ED) is a rare genetic disorder affecting ectoderm-derived structures, with a study involving 27 Korean patients revealing a 74.1% positivity rate for ED.
- Genetic testing showed that 80% of positive cases had mutations in the EDA and EDAR genes, highlighting the importance of these mutations in diagnosing the condition.
- The study suggests that targeted sequencing for EDA/EDAR is recommended for patients with the classic ED symptoms, while whole exome sequencing (WES) is effective for those without them.
Chimerism monitoring following allogeneic hematopoietic cell transplantation (HCT) plays a pivotal role in evaluating engraftment status and identifying early indicators of relapse. Recent advancements in next-generation sequencing (NGS) technology have introduced AlloSeq HCT as a more sensitive alternative to short tandem repeat (STR) analysis. This study aimed to compare AlloSeq HCT with STR, focusing on the prediction of early relapse post-allogeneic HCT.
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- * The program utilized an exome-based multigene panel, achieving a diagnostic yield of 33.3%, leading to 629 positive diagnoses across 297 confirmed genes listed in the OMIM database.
- * KGDP collaborates with the Korean Undiagnosed Diseases Program (KUDP) to enhance genetic analysis and improve diagnostic and treatment options for patients, positioning KGDP as a key access point for these services.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a complex genetic disorder that affects cilia function, and a specific deletion variant in the DRC1 gene has been observed in some Japanese patients.
- In a study of 20 Korean PCD patients and a larger exome dataset, a notable prevalence of the DRC1 deletion was found, with 15% of the PCD cohort testing positive.
- The findings suggest that this DRC1 deletion is a founder mutation, affecting both Korean and Japanese populations, highlighting the importance of genetic testing for accurate diagnosis in these groups.