Encyclopedia of Human Genetics and Disease
by Evelyn B. Kelly
January 2013, 957pp, 7x10
2 volumes, Greenwood

Hardcover: 978-0-313-38713-5
$198, £153, 173€, A272
eBook Available: 978-0-313-38714-2
Please contact your preferred eBook vendor for pricing.

Many scientists consider genetic codes the key to unlocking the mysteries of human biology. Genes uncover the cause of certain diseases, explain the patterns of human development, and reveal the detrimental effects of outside agents. Understanding genomes can help future generations prevent—and perhaps cure—some of the conditions which currently defy treatment.

This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself.

Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science.

Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as “Genetics 101,” the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.


  • Illustrations and photographs
  • An informative timeline of genetic study advancements
  • An annotated list of websites and helpful books
Evelyn B. Kelly, PhD, is professor of educational leadership at Saint Leo University, Ocala Center, FL. Her published works include ABC-CLIO's Encyclopedia of Attention Deficit Hyperactivity Disorder and several books from Greenwood Press, including Obesity, Stem Cells, Gene Therapy, and The Skeletal System.


"Encyclopedia of Human Genetics and Disease has some qualities that could recommend it for a less specialized audience that would appreciate placement of the genetics topics in a broader context and could benefit from the genetics primers and special topic overviews."—Reference Reviews, March 11, 2014

"This is an excellent resource for school, public, and consumer health libraries, offering a very accessible presentation of complex material."—Booklist, April 1, 2013

"This resource is a quick guide that will be of particular use for high school students beginning a research paper, but may also be useful to early undergraduates looking for basic information on a particular genetic disease. . . . The entries will not overwhelm a student new to the topic, but they also provide additional resources as a gateway to more in-depth information if a student wishes to go further."—ARBA, February 1, 2013
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