Unlocking an Ataxia Diagnosis: The Advantage of Whole Genome Sequencing

Dec 3, 2025

Accurate diagnosis of ataxia is critical for guiding patient management, informing treatment decisions, and enabling access to supportive resources. However, diagnosing hereditary ataxias remains challenging due to their genetic complexity and the limitations of standard testing methods. In this webinar, Dr. Christine Stanley, PhD, FACMG, discusses how whole genome sequencing (WGS) is transforming ataxia diagnosis. Unlike panel or exome tests, comprehensive genome analysis captures all relevant variant types, including repeat expansions in up to 18 ataxia-associated genes, in a single test. Through real patient case studies, Dr. Stanley illustrates how genome testing can reveal answers previously missed and why it should be considered a first-tier test for patients with unexplained ataxia.

About the speaker

Christine Stanley, PhD, FACMG

Dr. Stanley is the Chief Genomics & Compliance Officer at Variantyx and an expert at interpretation of whole genome data. Christine oversees technical innovation, clinical interpretation, and regulatory compliance at Variantyx.

Christine holds a PhD in Human Genetics from the Medical College of Virginia with fellowship training at Boston University in clinical molecular genetics. She is a diplomate of the American Board of Medical Genetics and Genomics and a Fellow of the American College of Medical Genetics and Genomics. She is a member of the Clingen expert panels: Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel and Mitochondrial Diseases Gene Curation Expert Panel. Dr. Stanley is the CLIA and NYS license holder for Variantyx.