1.Improvement of screening model for genetic heart diseases

• Establishment of ECG Screening and Interpretation Model:

We will collaborate with the Taiwanese Foundation for Children with Heart Disease to establish a Standardized ECG Interpretationl. Given the current lack of consensus on ECG interpretation standards and the variability in practices among cardiologists regarding referrals for patients who may have serious heart problems, we plan to leverage the latest artificial intelligence technology to construct a comprehensive ECG screening and interpretation model based on raw ECG data.

• Family Screening: mplementing WES-based Rapid Trio Screening Method:

WES-based Rapid Trio Screening: Simultaneous whole exome sequencing (WES) testing for parents and patients, rather than being limited to existing panels, allows for the identification of new mutation sites. This method enables the efficient and rapid detection of gene variants associated with the disease. Particularly, it can uncover genotypes that are currently unknown, thus supporting future research directions.

2.Comprehensive Diagnosis of Disease Phenotype/Genotype:

• Utilizing the WES-based rapid trio genetic testing method to enhance diagnostic accuracy, we will incorporate digital imaging and electrophysiological feature analysis to explore the correlation between genotype and disease phenotype. This comprehensive approach aims to identify prognostic factors associated with genetic cardiac diseases.
• Based on the findings from these studies, we will develop treatment strategies tailored for patients in our population (Asian ethnicities), thereby establishing therapeutic guidelines for genetic heart diseases.

3.Establishment of Genetic Counseling, Guidance, and Friendly Referral Process

4.Developing Precision Next-Generation Therapies for Challenging Treatment Cases:

• In addition to known medications, we will explore novel treatments by differentiating patient-derived induced pluripotent stem cells into cardiac cells. This will enable us to conduct research on the pathophysiology and drug targets, leading to the development of new therapies.