Taiwanese institutes develop test for FOXG1 syndrome

台灣研究所開發FOXG1症候群檢測流程

Agencies predict brain abnormalities in over 90% of patients through clinical and lab analysis


TAIPEI (Taiwan News) — National Yang Ming Chiao Tung University and National Taiwan University Children's Hospital have collaborated to develop a test that predicts the severity of the rare FOXG1 syndrome, which is expected to aid in planning subsequent treatment strategies.

Forkhead box protein G1 (FOXG1) syndrome is a rare genetic neurodevelopmental disorder. It is caused by mutations in the FOXG1 gene, which leads to impaired brain development and structural abnormalities. Infants affected by the syndrome are typically born small and experience slow head growth, resulting in an abnormally small head by early childhood.

Lee Wang-tso (李旺祚), director of National Taiwan University Children's Hospital, said the team analyzed clinical symptoms and brain imaging data of 14 patients from Taiwan and abroad, per CNA. The team also integrated laboratory tests, including analyzing protein levels, studying gene activity, and conducting experiments on cell movement, successfully predicting brain abnormalities in over 90% of patients. The research findings were published in Molecular Psychiatry, an international medical journal focused on psychiatric disorders.

National Yang Ming Chiao Tung University Brain Science Institute Professor Tsai Jin-wu (蔡金吾) said the FOXG1 gene plays a crucial role in early brain development, and mutations can lead to epilepsy, motor impairments, feeding difficulties, and delays in cognitive development.

Tsai said that one in every 30,000 newborns is affected by the condition, with approximately 1,200 patients worldwide. He also noted that genetic sequencing is currently used to detect variations in the FOXG1 gene, and the severity of the condition varies depending on the specific mutations.

Lee hopes the new diagnostic tool will promote disease detection during pregnancy or in the newborn stage. This will also help close the gap in understanding the condition and allow doctors to give more accurate and timely treatments.

In November 2022, the hospital partnered with Pfizer Taiwan to establish a gene therapy center. Lee said that over 300 million people worldwide have rare genetic diseases, but research and drug development in this field remain limited.

The hospital added that they have developed a comprehensive care system, including evaluation, treatment, and follow-up. They also aim to discover new therapies for these conditions.