Speakers - 2026

Title: Decoding pediatric neurological disorders: The impact of modern molecular genetics

Abstract

Molecular-driven personalized medicine is quickly replacing symptom-based treatment in the field of pediatric neurology, which is at a historic turning point. Clinicians used neuroimaging and observational semiology to categorize childhood brain disorders for decades. But contemporary molecular genetics—more specifically, the shift from targeted gene testing to high-throughput Next-Generation Sequencing (NGS)—has completely changed how we think about the development of human brain.

This talk explores how the clinical workflow has been transformed by the combination of Whole-Exome Sequencing (WES) and Whole-Genome Sequencing (WGS). We start by discussing the "diagnostic odyssey"—the difficult time of uncertainty that families of children with neurodevelopmental disorders must endure. Clinicians are now obtaining diagnostic yields exceeding 40–50% by using genomic tools early in the diagnostic process, frequently finding de novo mutations that conventional family history assessments would overlook.

Lastly, we discuss the ethical and practical issues raised by this genomic revolution. This includes the difficulties in interpreting Variants of Unknown Significance (VUS), the need for interdisciplinary "neurogenetics" clinics, and the financial obstacles to fair access to testing. We are getting closer to a time when "idiopathic" cases are rare and individualized, curative treatments are the norm as we unravel the genetic causes of pediatric neurological disorders.

Key Audience Takeaways

Attendees will depart this presentation with a comprehensive understanding of the intersection between genomics and clinical neurology. Specifically, they will gain:

1. Diagnostic Literacy: The ability to distinguish between different genomic testing modalities (e.g., NGS panels vs. WGS) and identify the optimal timing for their clinical application.
2. Mechanistic Insight: An understanding of how specific genetic mutations dictate disease progression and treatment response.
3. Precision Therapy Framework: Knowledge of current FDA-approved and emerging gene-targeted therapies, shifting the focus from symptom suppression to disease modification.
4. Variant Interpretation Skills: Strategies for managing "Variants of Unknown Significance" (VUS) through phenotypic correlation and family segregation studies.