Pfizer Establishes Rare-Disease Research Unit

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This week, Pfizer created a new research unit within its Worldwide Research and Development division that will focus on rare diseases.

This week, Pfizer (New York) created a new research unit within its Worldwide Research and Development division that will focus on rare diseases. The new unit will expand the company’s presence in rare-disease research and seek to discover medicines for diseases that affect fewer than 200,000 patients. Pfizer’s Rare Disease Research Unit will pursue treatments in all therapeutic areas, and the company will collaborate with patient-advocacy groups as it develops the unit’s research plan. The establishment of the new research unit is part of Pfizer’s strategy to use its scientific and technological resources to find new treatments for patients with large unmet medical needs.

Edward Mascioli, most recently the founder and CEO of private-equity firm Dapis Capital, will lead the Rare Diseases Research Unit. Mascioli gained clinical-development experience as vice-president of clinical affairs at Peptimmune (Cambridge, MA) and as senior medical director at Parexel International (Waltham, MA). Mascioli, who also has a background in business development, will be based in Cambridge, Massachusetts, and will report to Jose Carlos Gutierrez-Ramos, Pfizer’s senior vice-president of biotherapeutics research and development.

“We are very excited about our new Rare Diseases Research Unit,” said Gutierrez-Ramos in a company press release. “We are coupling Pfizer’s existing experience in rare diseases such as hemophilia with our advanced protein technologies, resources, and world-class scientific team to focus on becoming a driving force in rare-disease research. Pfizer has a long history in discovering, developing, and commercializing medicines that treat rare diseases and we are hopeful that this research unit will lead to additional new medicines for patients suffering from devastating illnesses for which there is no cure.”

The National Organization for Rare Disorders (NORD) is “very happy that Pfizer is establishing a Rare Diseases Research Unit,” said Peter L. Saltonstall, the group’s president and CEO, in the Pfizer press release. “Approximately 30 million Americans, 30 million Europeans, and millions more around the world have rare diseases and, for most of those people, there is no specific treatment. As the voice of the US rare-disease patient community, NORD applauds Pfizer’s commitment to expanding its research with the goal of developing new treatments for this medically underserved population.”

Although more than 6000 diseases are classified as orphan diseases, fewer than 10% of them are directly targeted by specific drugs. The pharmaceutical industry traditionally has invested little in rare-disease research, and its scientific advances in this field have proceeded slowly as a result.


Pfizer’s interest in rare diseases was first manifest in December 2009, when the company licensed the worldwide rights to taliglucerase alfa, a product that treats the genetic disorder Gaucher disease, from Protalix Biotherapeutics (Karmiel, Israel). With that deal, Pfizer became a competitor of Genzyme (Cambridge, MA), which markets Cerezyme as a treatment for Gaucher disease.

See related PharmTech articles:
New Unit for Rare Diseases R&D Launched (PharmTech Europe)

10 New Orphan Products a Year between 2009 and 2019 (PharmTech Europe)