AI for Children

Applicable AI solutions in the entire process of diagnosis, treatment, and prognostic health management of rare pediatric diseases

Improving the Diagnosis and Treatment of Rare Pediatric Diseases

It is estimated that there are more than 7,000 rare pediatric diseases worldwide, and 80% of them are hereditary diseases. However, approved treatment is avaliable for only 5% of rare diseases, and in cases when symptoms appear in infancy or early childhood, 30% of the patients die prematurely.

With 22 (48.9%) out of 45 general hospitals that offer advanced treatment concentrated in the Seoul metropolitan area, numerous patients are forced to search for available hospitals and often end up missing the opportunity to receive timely treatment. Utilizing AI technology can resolve disparities in healthcare through early diagnosis and securing timely treatment.

‘AI for Children’ is a project that identifies problems in the current process of diagnosis, treatment, and prognostic health management as well as the means to improve them, then using these findings to create an AI solution for developing software applicable to each stage of the process.

Ultimate Research Goals

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Genetic information analysis

Diagnosis

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Curation

Improving mutation interpretation accuracy by presenting a tiered gene system based on the unique characteristics of nine rare disease groups curated under the Human Phenotype Ontology.

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Rare disease diagnosis

Therapy

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Customization

Clinical and patient decision support system for personalized therapy and data analysis of various information, including personalized medication, therapy, and clinical trials.

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Disease specific Treatment / prescription

Prognostic and health management

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Continuum

Continually monitoring unusual signs, therapeutic effects, etc. and offering customized application services for each condition in the daily lives of patients with rare diseases.

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Patient Monitoring

AI Learning

A4C
Al for Children

Al solution for diagnosing /
preventing rare pediatric diseases


Connection

Developing and validating efficient Al models by utilizing multi-layered networks between the Seoul metropolitan area and regional centers and collaborating with the National Bio Big Data Project (Includes 20,000 WGS data and 40,000 genetic data of rare diseases)

We expect that this solution will enable various base hospitals to perform basic genomic data interpretation with ease, as well as access the latest treatment the diagnosed patients recieved. The solution will also assist in providing personalized care and management of diseases through the active participation of patients and their families, thereby reducing overall medical costs and contributing to the enhancement of domestic healthcare quality.