Session # O34

Utility of targeted RNA analysis in neurological disorders

Presenting Author: Shoji Ichikawa, PhD

Take home points: 

1. Accurate classification of potential splicing variants often requires a demonstrated impact by RNA analysis. This is particularly challenging for neurological disorders due to the lack of accessibility to disease-relevant tissues.
2. Our RNA studies of 30+ variants using patient's blood samples indicate that RNA analysis can be used to clarify the pathogenicity of potential splicing variants identified in genes associated with neurological disorders.

• Speakers: Shoji Ichikawa; Katie Yergert; Brooklynn Gasser; Meghan C. Towne; Dana Burow
• Conference: ACMG 2024
• Date: Thursday, Mar 14, 2024 11:30am - 11:45am