Mitochondrial Medicine and Biology

Mitochondrial diseases (MDs) are the most common group of inherited metabolic diseases world-wide.

These diseases affect as many as 1 in 5,000 live births. Although each individual mitochondrial disease may be rare, taken collectively, mitochondrial diseases are as common as childhood cancer. MD affects young infants, children as well as adults and has devastating consequences that include diminished growth, brain and nervous system failure, loss of hearing, motor function, liver dysfunction and heart failure that result in premature death. Mitochondrial diseases are caused by mutations in mitochondrial genes that lead to defects in mitochondrial function and consequently lead to diminished energy metabolism. Unfortunately, there are currently no effective treatments or cures for mitochondrial diseases and current therapies involve only supportive measures, such as palliative surgery or antiepileptic drugs. Therefore, there is an urgent need for development of cures and treatments for mitochondrial diseases as well as improved diagnosis using diverse high throughput technologies.

We have developed unique tools that can specifically target genetic mutations to revert them from a mutated to normal condition. Our patented technology has enabled us to develop these tools to target mutations that cause mitochondrial diseases as specific genetic treatments for these devastating disorders. Our discoveries will provide much needed hope for patients and families affected by mitochondrial diseases.

In addition, we apply high throughput technologies to identify and validate mutations in mitochondrial diseases and provide molecular diagnosis for patients and families.