POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

Possible examples include Pearson syndrome ... the role of the mitochondrial genome must be considered with respect to human genetic disease. The heterogeneity of the mitochondrial genome presents ...

Thus diseases of recessive genes ... The founder effect is an extreme example of "genetic drift." Genes occurring at a certain frequency in the larger population will occur at a different ...

With genetic testing, we know more than ever about this devastating disease—but genes are only one part of the story.

Hereditary disorders can tweak your eye health ... “Such inheritance is known as autosomal dominant. Examples include Huntington's disease and achondroplasia. There are times when both parents ...

P rince Frederik of Luxembourg, the youngest son of Prince Robert of Luxembourg and Princess Julie of Nassau, died in Paris ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

A genetic screen can potentially diagnose more than 1,200 genetic disorders and chromosomal abnormalities ... presence of dysmorphic features. For example, if a child has coarse facial features ...