Building on Baylor Genetics’ CNS Annual Partner Satellite Symposium, this webinar focuses on the next steps when genome/exome sequencing fails to yield a diagnosis. Pediatric neurologists often face the challenge of unresolved cases despite comprehensive sequencing. This session will introduce emerging strategies including RNA sequencing, metabolomics, and deep phenotyping that may help move families closer to a diagnosis. Participants will gain a framework for approaching the “negative result” scenario, understand current limitations, and learn about evolving multi-omic tools and paradigms in undiagnosed rare disease research.
Bharatendu “Bharat” Chandra, MD
Dr. Chandra is a Neurogeneticist, currently an Assistant Professor with the Division of Medical Genetics and Genomics at the University of Iowa. He is an adult neurologist, internist, and a medical geneticist, with the expertise to study the natural history of complex neurogenetic and rare diseases. His research focus is on understanding complex and ultra-rare disorders using deep phenotyping, multiomics, stem cells and organoid-based disease modeling. He is the director of the Iowa Undiagnosed Diseases Program, which leverages a hybrid clinical and research-based model to care for individuals with undiagnosed rare and complex diseases across their lifespan.
Lisa Mullen Salz
Lisa Mullen Salz is a senior medical science liaison at Baylor Genetics whose clinical experience includes high-risk prenatal and pediatric/rare disease genetic counseling. In the field of genomics, Lisa provided pre- and post-test genetic counseling for early clinical research studies that focused on measuring the clinical utility of rapid whole genome sequencing (WGS) in the pediatric acute-care setting and assisted with policy development to expand access to comprehensive genetic testing. The throughline of Lisa’s 30 years as a certified genetic counselor is that every diagnosis matters for a patient and their family.