Richard Blumberg, MD, humbly refers to his hemophilia drug discovery as “a beautiful mistake.”
It was July 22, 1992. Blumberg, now chief of the Division of Gastroenterology, Hepatology and Endoscopy, and co-director of BWH’s Biomedical Research Institute (BRI), was investigating MHC class I molecules in humans when his postdoc walked into his office with a blot he was convinced was a failed experiment.
“We looked at it together,” said Blumberg. “Thank God he talked to me because in that blot was structural evidence that a neonatal Fc receptor (FcRn) previously believed to be found only in the neonatal intestine was being expressed in the adult human gut. I recognized the potential scientific impact of this and began a rigorous research program on the biology of that receptor and possible therapeutic opportunities for various diseases.”
Blumberg discovered a physiological pathway in adults that engages the FcRn receptor and protects antibodies from degradation. He realized this discovery could provide a great opportunity for a company aimed at drug delivery and a generation of therapeutics with a long half-life. In 1994, he assembled a team of scientific collaborators, including Wayne Lencer, MD, of Boston Children’s Hospital, and Neil Simister, DPhil, of Brandeis University, and began the process of commercialization with the help of BWH.
“Back then, the process of commercialization was new to me and new to the Brigham,” he said.
Getting Down to Business
Blumberg developed a business plan for a company with the support of his physician brother, who happened to work on Wall Street, and Partners Research Ventures & Licensing (RVL). RVL works with clinicians and scientists at BWH and other Partners institutions to help turn their innovations into products and technologies that benefit patients. Blumberg, who had also pursued business training as a junior faculty member, completed licensing negotiation by 1997 and began working to raise money and identify leaders for his new Waltham-based company, Epitech, which later became Syntonix Pharmaceuticals.
With Syntonix, Blumberg began pursuing a number of therapeutic targets for his discovery, including Factor VIII and Factor IX, clotting factors that patients with hemophilia require. Patients receive these factors via infusion three to four times per week, a largely burdensome dose and frequency.
The solution? Engineering recombinant Fc fusion proteins with clotting Factor VIII and Factor IX to extend their half-life, so that patients require fewer infusions. Biogen Idec, of Cambridge, has since acquired Syntonix and is developing novel therapeutics for hemophilia, some of which are now being reviewed for approval in front by the U.S. Food and Drug Administration.
Blumberg’s partnership with RVL is an example of academia and industry coming together to benefit the public.
“This is a game changer when it comes to hemophilia patients’ quality of life,” said RVL Vice President Chris Coburn. “Dr. Blumberg’s work and its expression into new drugs from Biogen are very representative of why RVL exists; we’re here to ensure that the greatest number of people possible benefit from the terrific work of the staff of the Brigham and other Partners hospitals.”