[Sportschosun Reporter Jang Jong-ho] A genomic analysis platform has been developed that can identify the genes behind rare endocrine disorders more quickly and accurately.
The platform is expected to help efficiently determine the causes of rare diseases and guide treatment decisions.
A research team led by professors Lee Si-hoon and Eom Yeong-sil of the Department of Endocrinology and Metabolism at Gachon University Gil Hospital, Dr. Noh Min-soo, Professor Lee Heon-sang of the Department of Biological Sciences at Korea University, and graduate student Han Yun-seo developed a genomic analysis platform called EVE (Endocrine Variant Extractor), which can rapidly analyze gene variants that cause rare endocrine disorders. By applying it to actual patient care, the team successfully identified a new GATA3 gene variant for the first time in Korea.
The findings were published in the international journal Frontiers in Endocrinology.
Rare endocrine disorders often take a long time to diagnose accurately because they affect only a small number of patients and present with diverse symptoms. Recently, whole-exome sequencing (WES) has become a key tool for diagnosing rare diseases, but a single test can reveal hundreds of thousands of gene variants. That has made advanced bioinformatics analysis necessary to find the true causal variant.
EVE, developed by the research team, automates this complex analysis process. When raw genomic data are entered, it generates a clinical report that medical staff can use immediately. Focusing on 413 genes related to endocrine disorders, it quickly filters out the candidates needed for diagnosis from among vast numbers of variants. This helps clinicians more efficiently identify the cause of a rare disease and determine the treatment direction.
In validation using real patient data, the system reduced more than 320,000 gene variants to about 1,000 and automatically removed more than 99.6% of unnecessary variants. The entire analysis was completed in about three hours. The results showed that the platform can greatly reduce the burden on clinicians while improving diagnostic speed and accuracy.
In particular, the team applied EVE to a 28-year-old patient with hypocalcemia and hearing loss and identified a new frameshift variant in GATA3 (c.517delG), the gene responsible for HDR syndrome. The variant was confirmed to be a new pathogenic mutation not listed in international gene databases, and family analysis showed that it was a de novo mutation not present in either parent. Based on this, the patient was able to receive an accurate diagnosis, personalized treatment, and genetic counseling.
The study is the result of interdisciplinary research that combined Gachon University Gil Hospital's extensive clinical experience with Korea University's bioinformatics technology. The team has made EVE open source so that researchers and clinicians in Korea and abroad can use it. Going forward, it plans to build an Endocrine Variant Atlas by accumulating genetic information from a wide range of patients, contributing to the diagnosis of rare endocrine disorders and the advancement of precision medicine.
Professor Lee Si-hoon said, "This study focused on enabling clinicians to use genomic analysis results in actual practice without needing complex bioinformatics knowledge." He added, "Going forward, we will accumulate more genetic variant data and integrate AI-based analysis technology to improve the diagnostic accuracy of rare endocrine disorders and establish a new diagnostic standard for the precision medicine era."
Jang Jong-ho, bellho@sportschosun.com
