“McKusick's belief in this paradigm-the focus on disability rather than abnormalcy-was actualized in the treatment of patients in his clinic. Patients with dwarfism, for instance, were treated by an interdisciplinary team of genetic counselors, neurologists, orthopedic surgeons, nurses, and psychiatrists trained to focus on specific disabilities of persons with short stature. Surgical interventions were reserved to correct specific deformities as they arose. The goal was not to restore "normalcy"-but vitality, joy, and function. McKusic had rediscovered the founding principles of modern genetics in the realm of human pathology. In humans as in wild flies, genetic variations abounded. Here too genetic variants, environments, and gene-environment interactions ultimately collaborated to cause phenotypes-except in this case, the "phenotype" in question was disease. Here too some genes had partial penetrance and widely variable expressivity. One gene could cause many diseases, and one disease could be caused by many genes. And here too "fitness" could not be judged in absolutes. Rather the lack of fitness-illness [italicized, sic] in colloquial terms- was defined by the relative mismatch between an organism and environment.”

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About Siddhartha Mukherjee

Indian physician, biologist, and author

Siddhartha Mukherjee is an Indian physician, biologist, and author known for writing about medicine, cancer, and genetics. He has 76 quotes on the site. His first book, The Emperor of All Maladies: A Biography of Cancer, appeared in 2010 and won the Pulitzer Prize for General Nonfiction in 2011, along with the Guardian First Book Award. It was also included in Time magazine’s All-Time 100 Nonfiction Books. He followed it with The Gene: An Intimate History in 2016, which was named among The New York Times 100 best books of 2016 and was a finalist for the Wellcome Trust Prize and the Royal Society Prize for Science Books. In 2019, he received the Lewis Thomas Prize.

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Books by Siddhartha Mukherjee

The Emperor of All Maladies

2011

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The Gene

2016

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The Song of the Cell

2022

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The laws of medicine

2015

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