Date: October 18, 2026
Time: 3:30 pm to 5:00 pm
Room: Coral 2
Track: Cross-Cutting Special Interest Group (SIG)
This session explores a rapidly evolving and critically important shift in neurology: the integration of genetic testing into routine clinical care for neurodegenerative and rare neurologic diseases. Once considered inaccessible and of limited clinical utility, genetic testing is now more affordable, widely available, and increasingly actionable. Advances in understanding the genetic basis of conditions such as frontotemporal dementia, amyotrophic lateral sclerosis, white matter disorders, and rare epilepsies are transforming diagnosis, prognostication, and treatment. Concurrently, the emergence of gene-targeted therapies is redefining meaningful intervention, underscoring the importance of early and accurate genetic diagnosis.
Despite these advances, significant barriers remain, including underutilization of genetic counseling, uncertainty regarding appropriate testing criteria, and gaps in clinician familiarity with available testing strategies and their clinical implications. In parallel, rare disease clinical trial design presents distinct challenges, including small and heterogeneous patient populations, limited natural history data, difficulty selecting meaningful endpoints, and the need for innovative regulatory pathways.
This session will highlight emerging solutions to these challenges, including adaptive trial designs, biomarker-driven enrollment strategies, and approaches to improving trial readiness through earlier genetic diagnosis. Bringing together multidisciplinary expertise, the session will challenge misconceptions, showcase advances in gene discovery and therapeutic development, and provide practical guidance for integrating genetic testing into clinical workflows.
At the conclusion of this session, attendees will be able to:
In this presentation, Dr. Harms will review the genetics of ALS and FTD, from monogenic etiologies to polygenic risks, while outlining implications for genetic testing and treatments.
In this presentation, Dr. Murphy will discuss the current landscape of clinical genetic testing in adults and how it empowers patients to have access to emerging therapies.
In this presentation, Dr. Knupp will discuss how DEEs represent rare/ultra-rare disorders with unique features. Reviewing clear enrollment criteria and good outcome measures needed for studies.