Rare Disease Day was recognized worldwide Feb. 28, including at Connecticut's State Capitol.

Designed to educate policymakers and the public about rare diseases, the event gave CBIA’s Bioscience Growth Council an opportunity to showcase the contributions our members make to rare disease research and, most importantly, getting treatments and cures to patients.

Rare Disease Day
Patients who have benefited from Connecticut biopharma breakthroughs were at the State Capitol for Rare Disease Day.

A rare disease is any disease that affects fewer than 200,000 people.

But it would appear that many “rare” diseases are far from rare. In fact, there are 7,000 rare diseases affecting 10% of the population—roughly 30 million people in the U.S.

Unfortunately, for 95% of rare disease patients, there is no treatment or cure. Fortunately, the numbers of leading-edge biotech companies in Connecticut is not rare, at all.

Connecticut is a leader in rare disease research and development.

At the basic level, our research institutions—Yale, the University of Connecticut, and the Jackson Laboratory for Genomic Medicine—have made rare-disease breakthrough discoveries in areas such as bone and metabolic disorders, and in the complex task of diagnosing rare diseases.

Biotech Firms Focus on Rare Diseases

Every Connecticut biopharma has at least one significant rare disease research and development program.

Ridgefield-based Boehringer Ingelheim, for example, is a world leader in idiopathic pulmonary fibrosis, a scarring of lung tissue that compromises delivery of oxygen to the blood.

Paul Pescatello
CBIA Bioscience Growth Council executive director Paul Pescatello speaking at Rare Disease Day.

Bristol-Myers Squibb’s immunotherapy research and development will likely have great impact across a wide spectrum of rare diseases.

We are especially fortunate to have two breakthrough biotech companies in Connecticut that are focused primarily on developing rare-disease medicines.

Achillion Pharmaceuticals worked with great success on Hepatitis C therapies and is now partnering with Johnson & Johnson to further develop them.

This gives Achillion the space to focus on rare disease research and development affecting blood, kidney, and eye disorders.

Achillion recently leased another floor for its research and development efforts, and the company’s employment has expanded by 50% over the last five years—20% in 2016 alone.

Investing in Bioscience

Alexion Pharmaceuticals’ drug Soliris treats PNH and aHUS, ultra-rare blood/immune system disorders. The company’s Strensiq treats a rare bone mineralization disorder and its Kanuma treats a rare deficiency in the body’s ability to breakdown fats.

Founded in 1992 out of a research lab at Yale, Alexion now employs over 3,000 people, more than 1,400 of whom work in the company’s state-of-the-art labs at its New Haven headquarters.

Some days, half the hotel rooms in New Haven are filled with visitors meeting Alexion scientists and executives.

Hearing the journeys of rare disease patients, finding accurate diagnoses and effective treatments—stories told so well on Rare Disease Day—brought into sharp focus the great value of Connecticut’s investment in bioscience.

Companies like Achillion and Alexion bring treatments and cures to rare disease sufferers where there were none, and the quality and quantity of their research and development activity is building a stronger economy and jobs base.


For more information, contact CBIA Bioscience Growth Council executive director Paul Pescatello (860.244.1938) | @CTBio