The Molecular and Cellular Basis of Developmental Cognitive and Behavioral Disorders

Course Description 

• The overall educational objective of this symposium is to expose child neurologists to cutting-edge insights into the developmental roots of pediatric neurological disorders, particularly those influencing cognition, language, and behavior.
• Many disorders in child neurology – particularly those that are manifest by cognitive and behavioral dysfunction, the failure to reach developmental milestones, dysmorphisms, and congenital epilepsies – are attributable to fundamental aberrations during cerebrogenesis, whether genetic or acquired.

To that extent, a child neurologist might actually be viewed as a “translational developmental biologist”. Newer insights and tools in cell and molecular biology (e.g., human induced pluripotent stem cells, genome editing, organoids, whole genome sequencing, single cell ‘omics, epigenetic modeling, live cell imaging, high-throughput high content screening, etc.), have increased our ability to understand both normal cerebrogenic processes and the types of abnormalities that might occur in those processes which might produce the disorders we, as child neurologists, treat. Although many of these insights are so new that they have not yet yielded concrete treatments, they certainly have started to suggest ways to diagnose and stratify patients early and to offer potential drug targets.

This symposium seeks to discuss some of the cutting- edge research that might yield a better understanding of the cellular and molecular basis of some categories in this class of disorders.

The format for each of the 4 representative categories below will be as follows:

(1) a 5 min. introduction to the clinical entity
(2) a 20 min. synopsis of some of the cutting-edge molecular and cellular research and/or modeling ongoing in that entity;
(3) a 5 min. conclusion by the first speaker with an emphasis on the therapeutic implications of the new scientific insights.

Learning Objectives

1. Understand how and why a particular clinical entity emerged as an aberration of normal developmental processes.
2. Envision where future diagnostic and therapeutic options may lie.

Impact Statements

1. Counsel patients and their families with regard to the cause of a disorder and the likelihood of it’s being observed in future offspring or future generations.
2. Explain to families where the cutting-edge scientific understanding (based on the latest cellular and genetic techniques) lies for a particular disorder and what novel diagnostic and therapeutic options may lie ahead based on these understandings (new early tests, new drugs, new rehab strategies, etc.)

Organizer:
Evan Y. Snyder MD, PhD, FAAP
Sanford Burnham Prebys Medical Discovery Institute, UC San Diego School of Medicine, San Diego, California, USA

Co-Organizer:
Doris Trauner MD; UC San Diego, La Jolla, California, USA

Genetic Epilepsy Syndromes
Annapurna Poduri, MD, MPH; Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
Joseph G. Gleeson, MD; University of California San Diego, Rady Children’s Institute for Genomic Medicine, San Diego, California, USA

Autism
Adi Aran, MD
Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel

Alysson R. Muotri, PhD
UC San Diego School of Medicine, San Diego, California, USA

Neuropsychiatric Disorders
Shafali Jeste, MD; David Geffen School of Medicine, University of California, Los Angeles, California, USA
Evan Y. Snyder MD, PhD, FAAP

Cerebral Migrational, ‘Connectomic’, & Dysgenetic Defects
Harvey B. Sarnat, MS, MD, FRCPC; Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada
Jeffrey D. Macklis, MD, Dr.Sci.Tech; Harvard University, Cambridge, Massachusetts, USA