Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA). This condition can cause symptoms including muscle weakness, ...

Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene. The team of ...

The AHA recommended whole exome or whole genome sequencing as first-line diagnostic tools for mitochondrial diseases.

The energy factories in our cells contain their own genes, and genetic mutations in them can cause deadly inherited diseases. These oblong-shaped organelles, or mitochondria, translate genes into ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings were published recently in ...

Prince Frederik of Luxembourg died from a genetic disease called PolG, but experts hope his passing could bring more awareness to the rare condition that impacted his life. Prince Frederik, 22, died ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from ...

In 2022, the Japanese Ministry of Health, Labor, and Welfare revised medical service fees, covering genetic testing for mitochondrial diseases under medical insurance plans. The Center for Diagnosis ...

Geneticists looking inside the nuclear genome for mutations that contribute to disease have long relied on a principal known as constraint modeling, which allows researchers to assess the degree of ...

The CRISPR gene editing tool has been revolionary for the research lab, and it has also been used to transform the lives of a handful of patients of a few genetic diseases. Now scientists have used ...