ORPHAN: The Quest to Save Children with Rare Genetic Disorders (CSHL Press; November 2015) is the compelling stories of scientists seeking—and finding—cures for rare genetic disorders and the patients and families who assist them.
“In his intriguing and inspiring new book, Phil Reilly reveals the new avenues being pursued that offer hope to families around the world,” said Dr. John Inglis, Publisher and Executive Director, CSHL Press. “He began his clinical career caring for patients with unknown genetic syndromes who were beyond help. Now, after decades of immersion in science and medicine, he is seeking out and helping drive investment in highly promising opportunities for intervention in these disorders.”
Highly readable and engaging, Orphan provides first glimpses of the frontiers of scientific research and novel treatments, not previously explored in book form. Readers will learn, perhaps for the first time, about scores of conditions such as phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich’s ataxia, and the hopes for reducing the toll they take on patients and families.
Built on Dr. Reilly’s extensive experience of scientific startups aimed at breakthrough treatments, the book also contains a visionary road map for government and corporations that will bring advances from the lab bench more rapidly to a patient’s bedside.
ABOUT THE AUTHOR
Philip R. Reilly, MD, JD, is a Venture Partner at Third Rock Ventures in Boston, Massachusetts. Trained in internal medicine and clinical genetics, he specializes in starting companies that develop breakthrough therapies for orphan genetic diseases. Dr. Reilly was Executive Director of the Eunice Kennedy Shriver Center for Mental Retardation and was on the faculty at Harvard Medical School and Brandeis University, among other positions. Along with serving on the Board of Directors of the American Society for Human Genetics, Dr. Reilly was twice President of the American Society of Law, Medicine & Ethics and is a founding fellow of the American College of Medical Genetics. He is the author of more than 100 articles and seven books.