UCI/CHOC Diagnostic Center of Excellence Joins the Undiagnosed Diseases Network

The University of California, Irvine, and Children’s Hospital of Orange County’s (CHOC) Diagnostic Center of Excellence was recently selected by the National Institutes of Health (NIH) as a site for the Undiagnosed Diseases Network (UDN). The UCI/CHOC site is recognized as having specific expertise in neurogenetic and neurometabolic conditions. 

“Being part of the network will bring additional minds and resources toward finding answers for our patients, many of whom have suffered for years or even decades without an explanation,” said Changrui Xiao, MD, assistant professor in the Department of Neurology and lead of the neurogenetics program at UCI Health. “UCI and CHOC have a long history of providing cutting-edge clinical care and translational research, so this designation is also recognition of the effort and commitment both institutions have made to precision medicine.”

Neurogenetics is a field of study that aims to determine genetic causes of nerve and brain disorders, including neurodegenerative disease, epilepsy, movement disorders, neuromuscular conditions and leukodystrophies. Neurometabolic disorders are a group of conditions causing problems with both metabolism and brain function, and may result in uncontrollable epilepsy, abnormal movements or loss of developmental milestones. 

UDN is an NIH-funded initiative that combines clinical and research tools to facilitate the diagnosis and discovery of rare diseases. It was created to assist patients with complex medical conditions that have proven difficult to classify. As a “Diagnostic Center of Excellence,” UCI and CHOC will join a select group of institutions nationwide to provide expert clinical and genomic evaluation for the most challenging cases.

“This is a fantastic recognition of the high level of diagnostic expertise that only academic medical centers offer, combined with spectacular research on campus and at CHOC,” said Claire Henchcliffe, MD, DPhil, professor and chair of the Department of Neurology at UCI School of Medicine. 
Current and future principal investigators in this study include: 

• Changrui Xiao, MD, assistant professor, Department of Neurology, UCI School of Medicine 
• Claire Henchcliffe, MD, DPhil, professor and chair, Department of Neurology, UCI School of Medicine 
• Eric J. Vilain, MD, PhD, professor, Department of Pediatrics, UCI School of Medicine
• Tahseen Mozaffar, MD, professor, Department of Neurology, UCI School of Medicine
• Jose E. Abdenur, MD, chief, Division of Metabolic Disorders, CHOC
• Sanaz Attaripour, MD, assistant professor, Department of Neurology, UCI School of Medicine
• Albert R. La Spada, MD, PhD, Jack W. Peltason Endowed Chair, distinguished professor, Departments of Pathology & Laboratory Medicine and Neurology, UCI School of Medicine
• Suzanne B. Sandmeyer, PhD, vice dean of research and professor, Department of Biological Chemistry, UCI School of Medicine
• Nicolas M. Phielipp, MD, associate professor, Department of Neurology, UCI School of Medicine