Changrui Xiao

Changrui Xiao, MD, serves as an Assistant Professor in the Department of Neurology at the University of California, Irvine (UCI) School of Medicine, where he specializes in genomic approaches to diagnosing rare neurological disorders through clinical and research initiatives.

His research spans genomics, neurology, and rare diseases with emphasis on neurodevelopmental disorders and clinical genomic testing. Key interests include novel gene discovery, variant interpretation frameworks, and leveraging advanced sequencing technologies to improve diagnostic yield for Mendelian conditions. His work addresses critical gaps in reporting variants in candidate genes and translating genomic findings into clinical practice.

Recent publications (2024-2025) demonstrate consistent focus on genomic diagnostics for undiagnosed rare diseases, featuring telehealth evaluation methods, repeat expansion disorder discovery, and non-coding variant analysis. His research frequently involves large-scale consortia data and emphasizes practical implementation of genomic technologies in clinical settings.

Dr. Xiao contributes to major NIH-funded initiatives including the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium and the Undiagnosed Diseases Network. His work is supported by multiple NHGRI grants (U01 HG011745, U24 HG011746, U01 HG011762) focusing on genomic infrastructure development and diagnostic pathway optimization.

He actively participates in collaborative efforts integrating clinical expertise with genomic research through platforms like Matchmaker Exchange and ClinVar, emphasizing systematic data sharing to accelerate gene validation and improve diagnostic outcomes for rare disease patients.