Rare genetic diseases are directly caused by changes in genes or chromosomes, often passed from one generation to the next. Most of these diseases are often associated with severe or life-threatening features.
Incidence of a single rare genetic disease can vary widely but is generally very infrequent, usually equal to or less than one per 100,000 births. A disease is considered rare (or orphan) if it affects fewer than 200,000 people in the United States, or fewer than five per 10,000 people in the European Union.
Rare genetic metabolic diseases are a broad group of more than 600 diseases caused by mutations/defects of single metabolic genes. In these disorders, the defect of a single metabolic enzyme disrupts the normal functioning of a metabolic pathway, and leads to either an accumulation of metabolites that may be toxic or interferes with normal function, or reduces the ability to synthesize essential cellular components. Most rare genetic diseases are likely to be under diagnosed given the lack of awareness, available therapies or diagnostics and/or the rarity of the condition. The vast majority of rare genetic disorders have few therapeutic options available. The standard of care is often supportive, meaning treatment of symptoms with no effect on underlying disease mechanisms.
Agios is focused on creating disease-modifying medicines to treat rare genetic metabolic disorders that are unaddressed by existing therapeutic approaches. Our goal is not to address the symptoms, but to develop treatments that significantly slow, halt or reverse disease.