Clinical Adult Neurogenetics from Bedside to Basics
Description
In this presentation, Dr. Patricia Greenstein will give an overview and framework of genetic testing at the bedside.
Neurogenetics- From Bench to Bedside*
Date: September 15, 2025
Time: 12:00 pm to 1:00 pm
Track: Interactive Lunch Workshop
Session Description
This session delves into neurogenetics, a rapidly growing field. Over the past few decades, the genetic etiology of various neurological disorders has been identified. However, most clinical neurologists have not received formal training in neurogenetics. Although providers encounter numerous neurogenetic cases, they often struggle with the nuances of genetic testing, including various methodologies such as chromosomal microarray analysis, next-generation sequencing, repeat expansion testing, and exome- or genome-based sequencing1.
Interpreting the results from such tests can also be challenging in many instances. This issue is especially critical due to the shortage of trained genetic counselors and clinical geneticists nationwide who can assist in these scenarios. The situation is further complicated by the commercial availability of direct-to-consumer genetic testing. Interpreting results from such non-targeted tests can be difficult, particularly in the absence of relevant clinical symptoms2.
With the rapid advancement of treatments in the field of neurogenetics, it is imperative that educational programs offering training in this area become more widely accessible. This session aims to introduce the audience to the basics of neurogenetic testing techniques, help identify clinical scenarios that may warrant genetic testing and highlight gene therapy–based treatments available for certain genetic disorders[3,4].
Learning Objectives
At the conclusion of this session, attendees should be able to:
- Discuss the various genetic testing techniques and how to appropriately order for the specific test.
- Discuss the interpretation of genetic results such as non-pathogenic mutations, variant of unknown significance, etc.
- Assess the risks and benefits of new treatments for these disorders.
Speakers
- (Speaker) Patricia Greenstein, MBBCh
- (Speaker) Sonja Scholz, MD, PhD, FANA
- (Speaker) Payam Mohassel, MD, FANA
Clinical Approach to Genetic Testing
Description
This presentation will explore how genetic tools enable precision diagnosis and personalized care strategies in neurological practice.
Speakers
Gene Therapy Interventions
Description
This presentation will provide an overview of RNA- and DNA-directed therapies for neurogenetic and acquired neurological disorders.