FXN gene methylation determines carrier status in Friedreich ataxia

Friedreich ataxia is a genetic condition that is characterized by progressive incoordination and unsteadiness that leads to loss of independent mobility, and premature mortality due to heart disease. It is transmitted by unaffected parents who are “carriers” for the genetic defect that causes Friedreich ataxia, which the child inherits from both parents. Genetic testing of carriers is technically challenging and labs typically use multiple techniques to confirm the diagnosis of carriers. We describe a new technique that serves to efficiently diagnose carriers. (By Dr. Sanjay I. Bidichandani, https://jmg.bmj.com/content/early/2023/01/11/jmg-2022-108742 )

In the picture (from right to left): Christina Lam, Sanjay I. Bidichandani, Layne Rodden, and Morgan Tackett

(Visited 27 times, 1 visits today)