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In the latest online edition of Nature Genetics, researchers at powerhouse genetics center Cold Springs Harbor Laboratory report that they have identified an important mutation that, while rare, significantly increases a person’s risk of developing schizophrenia. (If the Nature Genetics looks like only so much jargon, you can find a more readable overview here instead.)

In schizophrenia genetics, it’s becoming increasingly clear that numbers matter.

This recently-identified mutation comes in the form of a copy number variant — a place on the genome where the number of bases or genes differs from one individual to another. This latest schizophrenia-related mutation sits on chromosome 16, and people who have an extra copy of the relevant region of that chromosome appear to be almost 15 times more likely to develop schizophrenia, according to the study. The study augments previous work on the role of copy number variants in this condition.

In our book, we talk about genetics and a number of different mental health and developmental conditions in Chaper 7, and provide some background on copy number variants in Chapter 9.

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"As you read these pages, I hope you will be inspired to explore how you might use genetic information to improve your own health."
- Catherine Wicklund, MS, CGC
President, National Society of Genetic Counselors, 2007
from her foreword to The Genome Book

About the authors

April Lynch is an author whose work focuses on health and genetics. As an award-winning journalist, she directed coverage of science, health, and medicine for The San Jose Mercury News, Silicon Valley's leading newspaper. She has also written for a variety of other organizations, including leading university textbook publisher Pearson Education and genomics firm Navigenics. Her work on the book and this blog reflects her views, and not those of any employer or organization.


Vickie Venne, MS, CGC, is celebrating 30 years as a genetic counselor. She worked in prenatal, pediatric, and laboratory settings before joining the Hunstman Cancer Institute at the University of Utah. In addition to caring for patients, she has taught for the California Department of Education and the University of Utah's graduate program in genetic counseling. She has also served as president of the National Society of Genetic Counselors and the local affiliate of the Susan G. Komen Breast Cancer Foundation. Her work on the book and this blog reflects her views, and not those of any employer or organization.