Neurogenetics and Gene Therapy

Date/Time: Sunday, October 23, 2022 - 3:30 PM – 5:30 PM
Track: Cross-Cutting Special Interest Group
Log in to Add to My Schedule


This session will highlight recent advances in our understanding of pathogenic mechanisms and treatment for neurogenetic disease. Through rapidly developing technologies the field of neurogenetics has extended beyond increased capacity for genetic diagnoses but also to broaden our repertoire of disease modifying therapies in gene specific manners. We will have four speakers who will span topics from pediatric to adult onset genetic syndromes and novel therapies including compounds to target gene expression, viral gene delivery and gene editing.

Chair: Suman Jayadev, MD

Co-Chair: Andrea L. Gropman, MD, FANA


  • Be aware of the different approaches to genetic manipulation
  • Be aware of different delivery methods being employed to deliver therapies
  • Be aware of the difference between delivery a gene, removing a gene and editing a gene

Individualized Oligonucleotide Interventions for Orphan Neurogenetic Disease


Liver-Directed Gene Therapy for Inborn Errors of Metabolism


Moving Neurogenetics into Neurotherapeutics: ALS as an Example


The Genetic Rationale Underlying Gene Therapy of Duchenne Muscular Dystrophy


A Novel Missense Variant in HIKESHI: Clinical Phenotype, In Vitro Functional Testing, and Potential for Gene Therapy

Poster Presenter: Eric Mallack, MD, Weill Cornell Medicine 

Blood-Brain-Barrier (BBB) Penetrating DNA/RNA Heteroduplex Oligonucleotide Regulating CNS Genes by Systemic Administration

Poster Presenter: Takanori Yokota, MD, Tokyo Medical and Dental University