Description
Since the origins of the field of human genetics nearly 125 years ago, there have been robust conversations about how to characterize genetic traits and disorders across the range from simple to complex. The intellectual framework has great importance in how human genetics is applied, particularly in an era when population genetic screening for so-called single-gene disorders has become increasingly feasible. The 2024 Presidential Symposium will feature three leaders across aspects of this topic: the history of the intellectual debate over simplicity vs. complexity in human genetics; understanding how genetic complexity modifies a paradigmatic simple genetic trait, sickle cell disease; and how randomness (i.e., stochasticity) contributes to phenotypes.
Learning Objectives:
1. Compare simplicity-first (Mendelian) and complexity-first (Weldonian) framings for an elementary genetics curriculum
2. Recognize that sickle cell disease is a monogenic disorder that shows wide variability in clinical outcomes, in part, due to the presence of genetic modifiers
3. Recognize how experiments in gene-edited model organisms can provide insights into the dynamic emergence of developmental defects, focusing on stochastic contributions to partial penetrance
