The Genetic Variants Behind "Early Bird" Sleep Patterns

Identifying the mutations that underly unusual sleep traits can provide insights into the biology of sleep and circadian function in humans.

Originally written by Sneha Khedkar, for The Sclientist, on Aug 25, 2025 |

 

Girl awakening at bed in morning. Child wake up early to go to school. Stretching and yawning. Healthy sleeping. 

In the 1990s, a woman approached sleep neurologist Christopher Jones at the University of Utah with an unusual complaint. She would fall asleep very early in the evening and wake up for the day at 2AM. Her odd sleep schedule was preventing her from spending quality time with her loved ones.

When she told Jones that some other members of her family experienced a similar sleep pattern, he suspected a genetic cause. Hoping to get some answers, he reached out to Louis Ptáček, a human neurogeneticist at the University of Utah. They suspected that the woman suffered from advanced sleep-phase syndrome: a condition where people find it difficult to stay up at night and wake up very early in the morning, unable to fall back asleep. However, scientists did not understand the underlying disease biology.1

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