Examining the Global Genetic Prevalence of TK2d

About this episode

The episode discusses the global genetic prevalence of thymidine kinase 2 deficiency and its implications for diagnostic accuracy.

Host: Brian P. McDonough, MD, FAAFP Guest: Austin Larson, MD Emerging research on thymidine kinase 2 deficiency (TK2d) provides new insights into its global genetic prevalence and variability across genetic ancestries. By combining clinical literature with large genomic databases, investigators estimated disease incidence using carrier frequency under Hardy-Weinberg assumptions, uncovering significant differences between populations and key pathogenic variants. Joining Dr. Brian McDonough to discuss the findings and their implications for improving diagnostic accuracy and refining genetic testing strategies is Dr. Austin Larson. He's an Associate Professor of Pediatric Clinical Genetics and Metabolism at the University of Colorado Anschutz, and he presented these findings at the 2026 Muscular Dystrophy Association Clinical and Scientific Conference.

People in this episode

Host: Brian P. McDonough, MD, FAAFP

Guest: Austin Larson, MD

Topics covered

• genetic prevalence
• thymidine kinase 2 deficiency
• genetic testing
• clinical genetics
• population variability

Keywords

• TK2d
• thymidine kinase 2 deficiency
• genetic prevalence
• carrier frequency
• pathogenic variants

Mentioned in this episode

Organizations: University of Colorado Anschutz

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