Jan 20 - 2026 Gene Therapy Bootcamp – Application in Neurodevelopmental Disorders-Presentation

Video Transcription

Video Summary

This ACMD educational webinar, titled "Gene Therapy Boot Camp: Application in Neurodevelopmental Disorders," introduced key concepts and challenges in gene therapy for rare neurodevelopmental genetic disorders. Dr. Maya Chopra provided an overview of therapeutic approaches including gene replacement therapy, antisense oligonucleotides (ASOs), and gene editing. She emphasized the complexity of treating neurodevelopmental disorders due to gene dosage sensitivity, delivery challenges to the brain, and the importance of selecting appropriate genetic mechanisms and clinical trial readiness. Dr. Chopra highlighted a framework called Gene Target, to prioritize disorders for gene therapy based on genetic, clinical, preclinical, and ethical criteria. Key considerations include early diagnosis, validated outcome measures, natural history studies, and ethical engagement with families.<br /><br />Dr. Tony Pearson presented a case study on Aromatic L-Amino Acid Decarboxylase (AADC) deficiency, an ultra-rare autosomal recessive disorder causing dopamine and serotonin deficiencies. Traditional treatments are ineffective, but gene replacement therapy using AAV2 vectors delivered directly into the brain (putamen or midbrain) shows promise. Clinical trials demonstrated symptom improvements, including motor function gains, especially in younger patients. The therapy requires stereotactic neurosurgery and is approved in Europe and the U.S. Biomarkers (CSF neurotransmitter levels) and clinical scores track effectiveness. Ongoing research aims to optimize delivery and timing. Both speakers addressed clinical trial design, biomarker use, ethical issues, accessibility, and the evolving role of clinical geneticists in this treatment era. They underscored the need for continued natural history studies, patient engagement, and careful balancing of therapeutic risks and benefits.

Keywords

Gene Therapy

Neurodevelopmental Disorders

Gene Replacement Therapy

Antisense Oligonucleotides

Gene Editing

Aromatic L-Amino Acid Decarboxylase Deficiency

AAV2 Vectors

Clinical Trials

Biomarkers

Ethical Considerations