Devoted to the topic of data specification (including data organization, data description, data retrieval and data sharing) in the life sciences and in medicine.
Thursday, February 1, 2018
Precision Medicine and the Reinvention of Human Disease (not just about genes)
If everything you know about Precision Medicine comes from the lay press, you may have an unrealistic notion of what's happening in this field. The news seems to stress the one gene -> one disease paradigm that is easy to understand, but largely irrelevant to all the common diseases that occur in humans.
The one gene -> one disease paradigm is this: the clinical expression of each disease is caused by a genetic mutation in a particular gene responsible for that particular disease, or a particular subtype of a disease, in a particular individual. By finding and targeting the gene responsible for an individual's disease, Precision Medicine will cure the patient.
This paradigm is short and sweet, and it is more or less true for a number of rare diseases; but it is wrong for just about every disease that occurs commonly in humans, and it serves to distract our attention from the medical revolution that Precision Medicine will bring.
The purpose of my new book, Precision Medicine and the Reinvention of Human Disease, discussed in previous blogs, is to explain how Precision Medicine is changing our fundamental understanding of the pathogenesis of disease (i.e., the biological steps that lead to the development of diseases), and how this new information is changing the way that we prevent, diagnose, and treat human diseases.
Precision Medicine is not about finding the right gene for the right patient. Precision Medicine is about finding the common events and metabolic pathways that account for the development and the expression of diseases; and using these insights to reduce the morbidity and mortality of disease in the population.
Google Books has a very good "look inside" for my book, and I hope that readers of this blog will take a few moments to see if they might be interested in the subject.
- Jules Berman
key words: precision medicine, jules j berman, Ph.D., M.D., disease biology, pathogenetic, monogenic, rare diseases, complex diseases, common diseases
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