Orphan: The Quest to Save Children with Rare Genetic Disorders

by Philip R. Reilly

Overview

Orphan is about the struggle to save the lives of children who, because of an unlucky roll of the genetic dice, are born with any one of several thousand rare genetic disorders. Many are burdened with diseases that carry mysterious names, some of which you can read about for the first time in this book, along with compelling stories about the physicians, scientists, and parents who have taken them on. The diseases include phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich's ataxia-just a few of the more than 1000 genetic disorders that are well-described and many more that are not. Many manifest in infancy. Some show up in mid-childhood, others later in childhood, and still others among adults. They touch almost every extended family. Orphan is more than a book about disease and research—it gives voice to thousands of people who, all too often, have endured terrible illnesses, bravely faced arduous clinical trials, and, sometimes, have gained victories, almost always in silence. This book recounts extraordinary breakthroughs and hopes for the future. Many of the disorders that will end our lives are in some part genetically influenced. We really are all orphans, and this book is for all of us.

Product Details

ISBN-13:	9781621821373
Publisher:	Cold Spring Harbor Laboratory Press
Publication date:	11/01/2015
Pages:	408
Product dimensions:	6.30(w) x 9.30(h) x 1.50(d)

About the Author

Philip R. Reilly earned his undergraduate degree at Cornell University, studied human genetics at the University of Texas Graduate School of Biomedical Sciences, and graduated from Yale Medical School in 1981. He did his medical residency at Boston City Hospital. He earned board certification in internal medicine and clinical genetics, and a law degree at Columbia University. He has served on the Board of Directors of the American Society of Human Genetics, and he is a Founding Fellow of the American College of Medical Genetics. He twice served as President of the American Society of Law, Medicine, and Ethics. During the 1990s, Reilly was the Executive Director of the Eunice Kennedy Shriver Center for Mental Retardation in Waltham, Massachusetts, a nonprofit that worked on understanding childhood and adult neurological disorders. Dr. Reilly has held faculty positions at Harvard Medical School and Brandeis University. Since 2009 he has worked as a venture partner at Third Rock Ventures in Boston where he focuses on helping to start companies to develop innovative therapies for orphan genetic diseases. Over the years he has published six books and many articles about the impact of advances in genetics. Reilly frequently works with patient groups who are concerned with rare genetic disorders.

Table of Contents

Preface, ix
Acknowledgments
Introduction

1. Diet
2. The Rise of Medical Genetics
3. Blood
4. Genetic Testing: Avoiding Disease
5. Stem Cells: Creating Human Mosaics
6. Enzyme Replacement Therapy: Genetically Engineered Drugs
7. Gene Therapy: Using Viruses to Deliver Normal Genes
8. Overcoming Mutations
9. Butterfly Children: Rebuilding the Skin
10. Ligands: Turning Genes On
11. Mending Broken Proteins
12. What Is Next: Emerging Therapies
13. We Are All Orphans: Lessons for Common Diseases

Bibliography
Index

Editorial Reviews

"A physician, attorney, and biotech entrepreneur, Philip Reilly clearly illuminates rare genetic disorders, the struggle to understand and treat them, and the promise of the latest advances in genetic testing and therapy. Engaging and compassionate, Orphan brings the exciting advances in biomedical research to life. This excellent volume is enriched by the often heroic stories of parents and physician-scientists determined to find answers."
- David J. Skorton, MD, Secretary, The Smithsonian Institution

"A fascinating, engaging, and at times inspiring look at the past, present, and future of genetic medicine told through the stories of scientists, doctors, patients, and parents who were heroes in the fight against genetic disease. Thoroughly enjoyable."
- Hank Greely, Stanford Law School, an authority on public policy issues in genetics

"Reilly's Orphan provides a very interesting and readable history of the various approaches used in efforts to first understand and then treat children who suffer from rare genetic diseases. Research efforts to identify rare genetic changes that cause disease used to require decades and large families, but with the rapid advances in genome sequencing over the past 15 years, this can now be done in weeks. Orphan discusses how these new discoveries might be coupled with gene editing or cell therapy to offer new hope to families."
- J. Craig Venter, PhD, Chairman and CEO, J. Craig Venter Institute, and a pioneer in human genomics

"Written with clarity and from first hand experience by a pioneer who is helping to develop new breakthrough therapies for children with rare genetic diseases, this book takes you by the hand and pulls you into the world of these children and their heroic parents, many of whom helped to champion new treatments working with equally heroic scientists and physicians. The story is truly compelling."
- Donald Ingber, MD, PhD, Founding Director of the Wyss Institute for Biologically Inspired Engineering at Harvard University

From the Publisher