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Complexities of Rare Diseases Take the Spotlight at BIO

June 17, 2015
Global Genes Founder & CEO Nicole Boice opened the BIO 2015 Orphan & Rare Disease Track by addressing a packed session with a simple, powerful statement: “We’re all working to eliminate the challenges of rare diseases, but patients and their advocates aren’t always equipped to fight.” Organizations like Global Genes help families affected by rare disease by connecting them with much needed tools and resources. By better understanding the definition of a “rare” disease, industry can better understand how to support patients and their families, and partner more closely with organizations like Global Genes.

“What is rare?” asked Richard Peters, MD, PhD, Head of Global Rare Diseases at Genzyme. “It’s a simple question with a complex answer.” Understanding the distinctions is an important part of understanding the state of the orphan drug development worldwide, both where it’s going and where it needs to go. However, the various stakeholders involved in the development and administration of orphan drugs tend to define rare diseases differently.

Regulators define rare diseases by the number of patients affected, while pharma and biotech companies see growth opportunities tied to critical therapeutic needs, and on. Most importantly, for patients the concept of “rare” can manifest itself as isolation from others, which is a problem that industry should address as it also seeks to develop innovative orphan drugs. For instance, the FDA defines a rare disease as affecting less than 200,000 Americans per year. However, when taken together, rare diseases as a whole affect a large number of patients worldwide.

Overall investment in companies whose lead candidates are rare disease therapies is increasing as venture capital directs more investment to these firms and as rare disease pharma and biotech companies are going public. In 2014, rare disease companies represented one-third of all biopharma IPOs and raised $3 billion via these offerings. Dr. Peters pointed out that the same amount has been raised already through this point in 2015.

These types of credits and incentives no doubt spur development and enable companies to develop critical orphan therapies. But defining “rare” for the future is a matter of integrating it into an overall company philosophy. “Rare is an approach,” said Dr. Peters. “All the functions about our company revolve around the patient.”

Industry incentives have certainly spurred the development of orphan drugs. A recent white paper developed by BIO, the National Organization for Rare Disorders (NORD) and Ernst & Young (EY) found that the Orphan Drug Tax Credit (ODTC) has positively impacted rare disease drug discovery. Among the report’s findings is that one-third fewer new orphan drugs would have been developed to treat rare diseases in the last 30 years without the passage of the ODTC as part of the Orphan Drug Act (ODA) in 1983. Orphan therapies have been, and continue to be, critical to patients suffering from rare diseases. Patients share their experiences in profiles that accompany this study. The white paper and patient profiles can be accessed at

The BIO International Convention continues through Thursday.