Orphan: The Quest to Save Children with Rare Genetic Disorders



A Must-Read Book on How Gene Science Is Saving Children's Lives.

Compelling stories of scientists seeking—and finding—cures for rare genetic disorders and the patients and families who assist them.

Cold Spring Harbor, New York, November 1, 2015 -- Cold Spring Harbor Laboratory Press (CSHL Press) today announced the publication of Orphan: The Quest to Save Children with Rare Genetic Disorders by Dr. Philip R. Reilly, the acclaimed clinical geneticist and biotech executive.

"Because of an unlucky roll of the genetic dice, children can be born with one of several thousand rare disorders," said Reilly. "Until recently, their prospects were poor. Now, there is extraordinary progress, thanks to biotech innovations based on human genomics, new funding sources, and the Internet's ability to connect previously isolated patients and their advocates with each other. In Orphan, I introduce you to some remarkably creative scientists and their ideas and to patients and families who are braving arduous clinical trials that illuminate the paths of progress."

"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. And 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. "No parent should have to worry that new drugs to save children with rare disorders are beyond financial reach," Reilly said. "If shown to be effective, new therapies for orphan genetic disorders may confer 70 years of normal life to a child. It does not take fancy financial analysis to argue that $1,000,000 spent to cure an extremely debilitating disease in a child is money well spent."

Orphan is available in print, ebook, and audio formats at bookstores and online.