10.11.2026 Simon E. Fisher
A molecular genetic perspective on speech and language
The rise of molecular technologies and analytical methods in human genetics is yielding exciting new ways to decipher the biological foundations of spoken and written language. My talk will outline complementary strategies capturing genomic variations of different kinds (rare gene disruptions and common DNA polymorphisms) and describe how these are being associated with developmental speech, language, and reading disorders, as well as with interindividual differences in the general population. I begin with lessons learned from studying FOXP2 disruptions that cause speech apraxia, accompanied by impaired language production and comprehension, before describing how genome sequencing has uncovered rare pathogenic variants in additional genes that regulate neurodevelopment. The functional impacts of these types of gene disruptions are being followed up using state-of-the-art model systems, including human brain organoids. Next, I discuss investigations of common DNA variants with individually tiny effect sizes, highlighting the challenges of robustly associating them with variability in language-related skills. Against this background, a shift from small candidate gene studies to large-scale genome-wide association study designs is transforming the landscape of the field, gaining leverage from team science approaches and personal genomics. I illustrate this shift with recent studies of relevant quantitative traits and diagnostic status in many thousands of participants, even extending to genomic analyses with neuroimaging-derived measures of brain structure and function. Overall, this work demonstrates the potential for the latest molecular genetic approaches to address long-standing questions about the neurobiology and evolution of human behaviours.