615 Charles E Young Drive South, BSRB 34607
Los Angeles, CA 90095
United States of America
Dr. Valerie Arboleda is a physician scientist and board-certified clinical pathologist and in the David Geffen School of Medicine at UCLA. She earned her Bachelor’s degree from Columbia University in New York and followed by her PhD in Human Genetics and MD through the Medical Scientist Training Program at UCLA. After completion of training in Clinical Pathology, she started her academic career as an Assistant Professor in the Department of Pathology & Laboratory Medicine, Human Genetics and Computational Medicine at UCLA. Dr. Arboleda’s expertise is in leveraging genomic technology to improve the diagnosis, prognosis and treatment for human disease.
Using next-generation sequencing technologies, she discovered the novel genetic cause of five genetic syndromes, including Arboleda-Tham Syndrome that is caused by pathogenic mutations in the histone-acetyltransferase gene KAT6A. At the start of the COVID-19 pandemic, Dr. Arboleda led the technological development, FDA- approval and deployment of a scalable, sequencing-based clinical testing in the UCLA SwabSeq COVID-19 CLIA laboratory. Through the pandemic, their novel testing platform has performed over 1 million tests and can ramp up to over 40,000 tests/week during a surge. Her COVID-19 work enabled weekly testing protocols and the safe re-opening of of schools and universities in Southern California. Currently, Dr. Arboleda’s research lab focuses on understanding the molecular mechanisms underlying mutations in chromatin-modifying genes causing Arboleda-Tham Syndrome, Bohring Optiz Syndrome and other genetic disorders. In addition to this, her team seeks to understand the role of common genetic variants can influence variability in disease phenotypes and susceptibility. Ultimately, by understanding the role of rare and common genetic variation, she aims to improve the diagnostic and prognostic capability of our genomic testing and improve our ability to tailor precision therapies to genetically defined subsets of rare disease.
Kalyanam Shivkumar, MD, PhD is the representative at this institution.