Researchers identify link between BRF2 gene mutations and rare diseases

A patient and his family, who had suffered from unexplained immunodeficiency, developmental disorders, and lymphoma for 16 years, have finally found the genetic cause.

This breakthrough was made possible by a Korean research team that newly discovered the link between mutations in the BRF2 gene—essential for maintaining cellular homeostasis—and rare diseases, elucidating the underlying pathogenesis for the first time worldwide.

On Tuesday, Seoul National University Hospital (SNUH) announced that a joint research team analyzed genomic and cellular data from patients with undiagnosed rare diseases and their families. They identified that BRF2 mutations could be the cause of rare immune deficiency and developmental disorders.

The joint research team was led by Professors Chae Jong-hee and Lee Seung-bok of the Department of Clinical Genomics at SNUH, student Kwon Hae-yoon of the Seoul National University College of Medicine, and Professor Kim Keun-pil and Dr. Yoon Seo-bin of the Department of Life Sciences at Chung-Ang University.

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KBR (https://www.koreabiomed.com))

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