Mitochondrial Disease Burden
Genetic mitochondrial disease is a rare disease with high morbidity and mortality
~75,000 people affected in the US (>1 in 4,300)
Onset can be in childhood or as an adult (35% mortality before age 18)
10% of adults hospitalized for mitochondrial disease die within 5 years
Mitochondrial disease primarily affects the high-energy systems in the human body
Nerves, heart, liver, muscles, kidney, endocrine and respiratory systems
DNA sequencing enables the rapid diagnosis of inherited mitochondrial disease
MSeqDR database: 1,628 genes associated with mitochondrial biology
4,507 variants in these genes associated with mitochondrial disease
The estimated cost to care for patients with mitochondrial disease in the USA is > $10 billion per year.
There are no drugs approved by the FDA for the treatment of mitochondrial disease.