I-SHOU University / Assistant Professor. Chen Chia-Hsing

 Pain Points Solved 

According to World Health Organization statistics, the incidence rate of developmental delay/intellectual disability in children is approximately 6%–8%. Among them, moderate to severe cases are mostly caused by genomic hereditary variations. However, the types of pathogenic variations are diverse and complex, and cannot be confirmed by a single test. For patients who cannot obtain a definitive diagnosis, due to the lack of a clear cause, they often cannot access health insurance benefits, specialized medical care, or patient support group resources, and may even miss the timing for disease mitigation or treatment.

Therefore, early and effective genetic testing diagnosis not only helps patients and their families but also reduces the burden on the social welfare and medical systems. This research aims to integrate multiple testing methods and adopt a tiered testing strategy to establish a genetic diagnostic platform for developmental delay/intellectual disability hereditary diseases, enhancing the efficiency and diagnosis rate of clinical testing processes.

 Technology Introduction 

The team combines chromosomal microarray, Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS) methods, and has established variant analysis and interpretation workflows and a report generation system. The testing workflow design and verification comply with ISO17025 requirements, aiming to establish commercially viable genetic testing products. The product has also undergone trial operations to confirm the feasibility of service operations.

Figure1. Genetic Analysis Testing Service Workflow

 Application Examples 

An undiagnosed pediatric patient from the Department of Pediatrics at National Cheng Kung University Hospital had a brother with similar clinical presentations, suggesting a family history of hereditary disease. Both brothers presented with global developmental delay, short stature, and growth retardation, and a definitive diagnosis could not be established after years of regular follow-up. Through blood testing using this diagnostic platform, they were finally diagnosed with KDM5C gene-related X-linked Intellectual Disability (Claes-Jensen type, MRXSCJ). Relevant research results were published in Neurology Genetics in 2021.

Reference:
Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.
Wu PM, Yu WH, Chiang CW, Wu CY, Chen JS, Tu YF.
Neurol Genet. 2021 Dec 3;8(1):e646. doi: 10.1212/NXG.0000000000000646. eCollection 2022 Feb.
PMID: 34877407

 Related Links 

None

 Patent Name and Number 

None

 Industry-Academia / Tech Transfer Partner 

 Industry-Academia: National Cheng Kung University, Department of Pediatrics

 Honors and Awards  

None

 Technical Contact  

Yu-Hui Huang, Manager

I-SHOU University
Tel: +886 7-6577711 ext. 2194
Email: yuhuihuang@isu.edu.tw