Study uncovers novel genetic variant associated with intellectual disability

Tandem repeats can be compared to sentences within the book of the human genome that are repeated several times. An excessive number of these repeats can lead to a disruption in the genetic instructions, impacting an individual's development and cognitive abilities, say the investigators.

Future research is expected to build on these findings. Although the current study focuses on a limited number of tandem repeat expansions, the human genome contains hundreds of thousands, many of which are likely to play a role in disease, explained Dr. Sharp. The team plans to expand their research to explore more of these repeat expansions, deepening our understanding of their prevalence and impact on the human population.

Source:

Mount Sinai Health System

Journal reference: