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Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology

Subject Area(s):  BiotechnologyGeneral Interest TitlesHistory of Science

By James A. Geraghty

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© 2022 • 265 pages, illustrated (46 B&W), index
Hardcover •
ISBN  978-1-621824-68-8

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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 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 U.S. 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.

Jim Geraghty has been a passionate participant in the orphan drug revolution since its inception—a leader in the field as a strategy consultant, biotechnology executive, and venture entrepreneur. 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 graphically and poignantly 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.


Foreword: How It All Started, 40 Years Ago
Introduction: Was It Really a Revolution?
1 Pre-Revolutionary Stirrings
The deep roots of the orphan drug revolution
2 Leading in the Revolution
The historic importance of hemophilia therapies
3 Somehow a Miracle Happens
Gaucher disease and the emergence of Genzyme
4 Patients Are Everywhere
Product launches in Europe, and well beyond
5 Broader Fronts Emerge
Alphabet soup: CF, PNH, SMA, HAE, DMD, TTR
6 Making Medicines in Milk
A long, unlikely path to two small orphan drugs
7 The End of the Beginning
Genzyme tries to do too much, and loses it all
8 Starting from Scratch
After a vacuum, “nothing is impossible” at TRV
9 To Boldly Go: Into the Brain
The challenges of CNS diseases at Voyager
10 Learning to “Regulate” DNA
Going well beyond “junk DNA” at Fulcrum
11 Into “Ultra-Orphan” Diseases
Taking on ultra-rare conditions at Orchard
12 To China, and Hopefully Back
Pursuing a 20-year mission at CANbridge
13 Where Patients Are Waiting
New start-ups tackle diseases yet unserved
14 Some Brief Lessons Learned
Observations for orphan drug entrepreneurs
15 The Challenge of Affordability
Ensuring availability for patients and society
16 Toward Long-Term Sustainability
With a revolution come new responsibilities
Epilogue: Heading to 50 Years
What might the next ten years bring?
Photo Section follows page 106