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 which is a rapidly growing field. Over the last few decades, genetic etiology for various neurological disorders have been identified. Most clinical neurologists have not received training with regards to neurogenetics. Although providers see several neurogenetic cases, they are unable to cope with nuances associated with genetic testing including various methodologies, such as chromosomal micro-array testing, next-generation sequencing, repeat expansion testing, or exome/genome-based sequencing[1]. Interpreting results that may arise from such test is also cumbersome in several instances. This is especially important due to the lack of trained genetic counselors or geneticists across the nation that may aid such clinical scenarios. Further, the situation is complicated by commercial availability of genetic testing directly to consumers. Interpretation of results from such non-targeted testing can be difficult especially in the absence of relevant clinical symptoms[2]. With the rapid advancement of treatment in the field of neurogenetics it is imperative that courses that offer training in neurogenetics are more readily available. This sessions aims to introduce the audience to basics of neurogenetic testing techniques, identifying clinical scenarios that may require use of genetic testing, as well as available gene-therapy associated treatments for 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 explores how genetic tools enable precision diagnosis and personalized care strategies in neurological practice.
Speakers
Gene Therapy Interventions
Description
This presentation will be an overview of RNA- and DNA directed therapies for Neurogenetics and acquired neurological disorders.