Joseph G. Gleeson, MD
University of California San Diego
Rady Children’s Institute for Genomic Medicine, San Diego, California, USA
Course Description
Discuss causes of childhood neurological conditions including intellectual disability, autism spectrum disorder and brain dysplasia. Focus on developing an approach towards genetic investigation based upon clinical presentation and family history and developing pathways towards new treatments.
Learning Objectives
- Differentiate between dominant, recessive, de novo, somatic, and complex modes of inheritance.
- Understand differences between gene testing strategies and their power to detect genetic mutations that can determine underlying signs and symptoms.
Impact Statements
- Approaches and limitations in evaluating children with neurodevelopmental disease for underlying genetic causes to enable more definitive genetic diagnoses.
- Approaches to selecting targeted therapies for specific mutations using antisense oligonucleotides.
