3 Genetic Processes

Shelly Jo Kraft and Jennifer E. Below

Abstract

In this chapter, we review basic concepts of genetics, describe what is known about how genetics impact risk of stuttering, and discuss directions for future study. The chapter begins with a review of the concept of heritability and how the familial nature of stuttering has been used to learn about the genes that impact its risk. Next, we introduce key concepts in human molecular genetics including how deoxyribonucleic acid (DNA) is inherited, how genes are transcribed as ribonucleic acid (RNA) and translated into protein, and how the characteristics of these molecules, which differ from person to person, can help us understand risk of stuttering on a cellular level. Then we will learn about the genes linked to stuttering that have been identified thus far, explore the limitations of these studies, and consider the kinds of future research that will be needed to understand three primary, but still incompletely understood, questions, in stuttering: (1) Why are some people and families at greater risk of stuttering? (2) What genes and genetic variants have been identified in studies of developmental stuttering to date? and (3) How are the genetics of stuttering related to the genetics of other traits and how can these relationships help us understand and treat stuttering? Finally, we will discuss future steps in genomics that are poised to inform the design and development of effective therapies for stuttering and empower people who stutter with information about how genetic factors may underlie their conditions.

Key words

genome-wide association studies (GWAS) - family-based linkage analysis - medical genetics - biobanks

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