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Rare Diseases

Rare Disease


The Rare Disease team works to develop effective therapies for patients affected by rare disorders, which are defined by the Orphan Drug Act of 1983 as those diseases affecting fewer than 200,000 patients in the United States.  Given our rapidly expanding knowledge of the molecular basis of genetic diseases, we believe now is the right time to apply our scientific expertise and drug development experience to the eradication of rare diseases.

Our research team based in Cambridge, Massachusetts has a rich history of discovering and developing therapies for a wide range of severe conditions. We are applying our world-class expertise in protein therapeutics and small molecule protein chaperones to develop next generation therapeutics for rare diseases, with an emphasis on hematologic, neuromuscular, and pulmonary diseases.

In addition to our internal research programs, we actively collaborate with patient advocacy groups, academic investigators, and other industry partners to accelerate the drug development process. By working together in innovative and strategic ways, we will together make a difference in the lives of rare disease patients, their families, and caregivers, all of whom deserve safe and effective therapies for the conditions that affect them.

Work with Us

If you’re interested in collaborating with our Rare Disease research team and want to learn more about work, visit our Rare Diseases Partnering page. We welcome the opportunity to discuss how we can work together.

Rare Disease Pipeline in Focus

Pipeline in Focus

Our current pipeline includes clinical and pre-clinical programs in sickle cell disease, hemophilia, muscular dystrophies, spinal muscular atrophy, cystic fibrosis, and other rare diseases.