Cold Spring Harbor, NY – Cold Spring Harbor Laboratory Press (CSHL Press), a publisher of scientific books, journals, and electronic media, today announced the publication of Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology by biotechnology executive Jim Geraghty.
Muscular dystrophies became familiar to Americans in the 1950s through Jerry Lewis’s popular telethons. Amyotrophic lateral sclerosis, or ALS, became famous first as Lou Gehrig’s disease, and became celebrated when a 2014 “ice bucket challenge” went viral. Many NFL fans know of cystic fibrosis from quarterback Boomer Esiason and his son Gunnar. But ask the average person to name another obscure disease, and they’ll probably come up empty. Invoke the names of any long-dead discoverers like the 19th century doctors Gaucher, Fabry, or Duchenne, and you’ll likely be met with a blank stare. Even people who’ve heard of these diseases think if there’s no family history, there’s no need to worry. They are wrong.
Advances in medicine have made possible better treatments for widespread, familiar human illnesses like cancer, diabetes, and heart disease. Yet there are thousands of much less common diseases, most of genetic origin, each classed as “rare” because it afflicts only a small number of people. These patient groups were long ignored by a pharmaceutical industry that judged them too small to provide a return on the investment needed to develop an effective remedy. Yet these “orphaned” diseases (officially, those affecting fewer than a number of patients defined by laws: 200,000 in the U.S.; 1 in 2000 in the EU; and comparable numbers in other countries) collectively caused misery and expense, often far greater than did more common ailments, for tens of millions of individuals and their families.
Forty years ago, a revolution that transformed the prospects of patients with rare diseases was lit by three sparks. The passage of the 1983 United States Orphan Drug Act resulted from public pressure brought by rare disease patients, their families, and advocates. The AIDS epidemic triggered additional activism, compounded when patients with the rare disease hemophilia became HIV-positive after infusion of tainted blood products. And the third spark was the emergence in the early 1980s of biotechnology companies like Genentech, Amgen, and Biogen employing then-new genetic engineering instead of conventional approaches to pharmaceutical development. Soon after, Genzyme became the first company to develop a treatment for a rare genetic disorder, Gaucher Disease, which would come to transform the industry.
A biotechnology executive, Jim Geraghty has been a passionate participant in the orphan drug revolution since its inception. His book is in part a history, with eyewitness accounts of advances as they occurred and portraits of the pioneering scientists and physicians, tireless activists, and visionary business leaders who made the revolution happen. And it tells deeply personal stories of patients and parents willing to risk new, untried therapies. But Geraghty also uses his exceptional experience and vantage point to look forward, to the immense promise of the newest technologies like gene therapy and gene editing for the treatment of patients today and tomorrow. He concludes with thoughtful consideration of important questions. Why do drugs to treat orphan diseases cost so much? How can we ensure they are affordable? How can their effectiveness be responsibly assessed? And how can access to them be expanded internationally? This book illustrates how far an important healthcare revolution has come and reminds us that if not nurtured, it could end before its immense promise has been fulfilled.
For more information visit www.orphandrugrevolution.com.
About Jim Geraghty
A widely recognized leader in the rare disease field, Jim Geraghty has been a director or chair of seven NASDAQ-listed biotech companies. He’s worked on orphan drugs for more than 40 years―as a strategy consultant, a CEO, a leader of pioneering international operations at Genzyme, and a venture entrepreneur. A former trustee of Harvard Medical School’s renowned Joslin Diabetes Center, he’s spoken before both houses of Congress, at the World Economic Forum, and at many other high-profile conferences. A Georgetown graduate with a masters in psychology from Penn and a law degree from Yale, he is a citizen of three countries and lives in Boston.
About Cold Spring Harbor Laboratory Press
Cold Spring Harbor Laboratory Press is an internationally renowned not-for-profit publisher of books, journals, and electronic media, located on Long Island, New York. Since 1933, it has furthered the advance and spread of scientific knowledge in all areas of genetics and molecular biology, including cancer biology, plant science, bioinformatics, and neurobiology. It is a division of Cold Spring Harbor Laboratory, an innovator in life science research and the education of scientists, students, and the public. All revenue from sales of CSHL Press publications supports research at Cold Spring Harbor Laboratory.