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Wenhui Laura Li, PhD, FACMG, Assistant Professor at the University of Southern California Keck School of Medicine, works as an Associate Director of Molecular Pathology and Genetics at Children’s Hospital Los Angeles, Los Angeles, California in USA. She was born in Beijing, China and graduated from Beijing Normal University (1992). Then she received M.S. in Cell Biology from Fordham University (1994) and Ph.D. in Molecular Biology & Genetics from Johns Hopkins University (2000). She did a fellowship at California Institute of Technology studying the molecular mechanism behind Bloom’s syndrome. She completed a clinical fellowship in Clinical Molecular Genetics, and she is Board certified by American Board of Medical Genetics (2013). Dr. Li is leading a clinical genomic lab at Children’s Hospital Los Angeles, USA. She oversees clinical test development and lab operations; educates trainees; and is responsible for the CAP/CLIA compliance of the entire clinical lab. In addition, she is a leader and frontrunner in the Next-Generation sequencing and precision medicine field. Her work on the clinical Retinoblastoma testing was featured on the most popular public radio NPR show in US. She has been actively reviewing more than 2,000 clinical chromosomal microarray cases and more than 100 clinical Next-Generation sequencing cases. In addition, she also conducts translational research studying the genetic causes for Optic Nerve Hypoplasia, the leading cause for childhood blindness. From this research, she has identified numerous candidate genes that could be causal for Optic Nerve Hypoplasia, which providing opportunities for the disease prevention and treatment.
Undiagnosed pediatric diseases