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CORNELL UNIVERSITY PRESSAmerica’s � rst University Press proudly
presents our 2016 Cornell University authors
“An important book that should improve the way we think about
urban policy.”—Edward G. Goetz, University of
Minnesota
William W. Goldsmith is Professor Emeritus of City
and Regional Planning in the College of Architecture, Art, and
Planning.
“I highly recommend this book to anyone interested in the past, present, and future of American medicine and medical training.”—David J. Skorton, President Emeritus,
Cornell University
Antonio Gotto Jr., MD, is Dean Emeritus of Weill Cornell Medicine.
Jennifer Moon is Editorial Administrator at Weill Cornell Medicine. Laurie H. Glimcher,
MD, is Stephen and Suzanne Weiss Dean of Weill Cornell Medicine and Provost for Medical A� airs, Cornell
University.
“A signifi cant contribution to the fi eld of disability employment
research.”—Andrew J. Imparato, Association of
University Centers on Disabilities
Susanne M. Bruyère is Professor of Disability Studies in the ILR
School.
“A must-read for every executive.”
—Rob Manfred, Commissioner of Major League Baseball
Samuel Bacharach is the McKelvey-Grant Professor of
Labor Management in the ILR School.
“Immensely learned, nuanced, timely, and strikingly original.”
—Timothy Hampton, University of California, Berkeley
William J. Kennedy is Avalon Foundation Professor in the
Humanities in the College of Arts and Sciences.
“Wonderful. Sparkles with energy and intrigue.”
—Justin McDaniel, University of Pennsylvania
Tamara Loos is Associate Professor of History and Southeast
Asian Studies in the College of Arts and Sciences.
“A perfect introduction by a virtuoso.”
—Warren D. Allmon, Paleontological Research Institution
Frank H. T. Rhodes is President Emeritus of Cornell University.
“Establishes a model to guide the evolution of the modern
university.”—Pamela Fry, Oklahoma State University
Robert J. Sternberg is Professor of Human Development in the
College of Human Ecology.
WWW.CORNELLPRESS.CORNELL.EDU
Available wherever books and e-books are sold.
30-31 CAM ja16 authors FINAL.indd 31 6/13/16 4:59 PM
32 C O R N E L L A L U M N I M A G A Z I N E
What Was MineSimon & Schuster/Gallery Books
People Magazine’s 2016 Book PickA novel by Helen Klein Ross(Maryhelen Klein ’76 at Cornell)“Helen Klein Ross takes a shocking premise and uses it to illuminate our human condition.”
—CLAIRE MESSUD, New York Timesbestselling author of The Woman Upstairs
HelenKleinRoss.com
Space deadline: September 15
Contact Sandra [email protected]
or (607) 272-8530, ext. 23
cornellalumnimagazine.com/advertise
Advertise inCornell AlumniMagazine’sHoliday Gift Special SectionNovember/December 2016 issue
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CAM JA16 page 32_00-00CAMM15Notes 6/9/16 2:52 PM Page 32
By Philip R. Reilly, MD, JD
O rphan 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 1,000 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.
2015, 408 pages, illustrated (12-page insert of B&W images), indexHardcover $29 $23.20 with free shipping at cshlpress.org/orphan ISBN 978-1-621821-37-3
ContentsPreface
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
Orphan
About the author: Philip R. Reilly earned his undergraduate degree in 1969 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 Found-ing 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.
Orphan
Learn more, read a free chapter, and order your copy today!Visit cshlpress.org/orphan
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