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Rare Diseases and the Promise of Genetics

Posted by | 9:53am on Wednesday, April 30, 2014

The rare informs the common. 

Sharon Moalem, MD, PhD, is not just an award-winning researcher and physician, the founder of 2 biotech companies, and the inventor of a tool to help diagnose rare diseases. He is also a New York Times bestselling author with a talent for making a riveting story out of the emerging science of genetics.

His latest book, Inheritance: How Our Genes Change Our Lives and Our Lives Change Our Genes provides a fascinating look at how genes behave and what happens when they misbehave. By sharing examples from his personal and clinical experience, he shows why small changes in genes can have such a profound impact on our lives and health.

Genetic Flexibility
Dr. Moalem’s book also demonstrates the inherent flexibility of our genomes with intriguing examples of differences in genetic expression. There is something reassuring about discovering that our genetic destiny isn’t fixed at conception. If you’re looking for a lucid and entertaining explanation of what we’re learning about genetics and health from someone on the front lines of research, this is the book for you.

Significance of Rare Disease Research

It’s also a good read if you want to know why rare disease research is important to all of us, not just a small subset of patients. His chapter entitled, Putting It All Together provides examples of knowledge gained from the study of genetic outliers that enabled breakthroughs in our understanding of cardiovascular disease (CVD) and Alzheimer’s disease.

“Lying deep inside of everyone with a rare genetic condition is a secret that, if they choose to share it, might one day serve to cure and help every last one of us,” Moalem notes. Or as he puts it more succinctly, “The rare informs the common.

For a visceral understanding of what this statement means, watch Dr. Moalem’s video.

About Pamela Todd

Pam’s extensive work in online intelligence, competitive analysis and audits allows her to provide clients with insights into their audiences’ needs and preferences. She puts those insights to work in creating and implementing user-centric, interactive content strategies to reach targeted patients, caregivers, and healthcare professionals.

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