What Genetic Disorders Reveal About the Biology of Intelligence

Derek Bowie, PhD
Professor
Department of Pharmacology & Therapeutics 
McGill University 
 

This conference is hosted by Hideto Takahashi, PhD . This conference is part of the 2026-2027 IRCM conference calendar.

About this conference
Human intelligence is among the most remarkable products of biological evolution, yet its molecular foundations remain poorly understood. Genetic studies of autism and intellectual disability are beginning to provide an unexpected window into this problem by identifying the molecular machinery essential for normal brain development and cognitive function.

Among the many genes implicated in these conditions, those encoding proteins at glutamatergic synapses have emerged as particularly important. In this lecture, I will discuss how studying disease-associated mutations in AMPA and NMDA receptors has revealed previously unrecognized mechanisms controlling calcium permeability and synaptic signalling. These findings challenge long-standing assumptions about how glutamate receptors operate and suggest that their functional properties are regulated far more precisely than previously appreciated.

However, understanding the consequences of genetic mutations requires more than identifying the affected protein. Glutamate receptors function within highly integrated molecular complexes whose properties are shaped by auxiliary proteins, RNA editing, alternative splicing, and neuronal development. Emerging evidence from our laboratory suggests that disruption of these regulatory relationships may contribute to intellectual disability in ways that cannot be predicted from genetic sequence alone.

By considering these findings in an evolutionary context, I will explore a broader question: Does the biological complexity that makes human intelligence possible also create its vulnerability to genetic disruption?

Ultimately, I will argue that while genetics provides an essential starting point, understanding intellectual disability, and perhaps intelligence itself, requires a more integrated view of biological organization.
 

About Derek Bowie
Dr. Derek Bowie is a Professor of Pharmacology & Therapeutics and Endowed University Chair in Medicine at McGill University. He obtained his PhD from the University of London and completed postdoctoral training in France, Switzerland, and the United States before joining the faculty at Emory University. He moved to McGill in 2002, where he held the Canada Research Chair in Receptor Pharmacology.

His research focuses on understanding how ion channels and neurotransmitter receptors regulate communication between neurons, with particular emphasis on the molecular mechanisms governing glutamatergic synaptic transmission. His laboratory has made important contributions to understanding AMPA receptor gating, calcium permeability, and regulation by auxiliary proteins. More recently, his work has focused on how disruption of these mechanisms contributes to autism, intellectual disability, and related neurodevelopmental disorders.

In 2022, he co-founded Nospharma, a biotechnology company developing therapeutics for rare neurological disorders.
 

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