Sunday, June 15, 2014

Rules for the Rare Diseases

It's not a numerical accident that rare diseases are rare. Biological processes account for the rarity of certain diseases, and for the commonality of common diseases. When writing Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases, I wanted to establish a set of biological principles that would extend to all the rare diseases and that would help explain the fundamental differences between rare diseases and common diseases.

Biological principles are much like geometric axioms. Once you have your set of principles, you should be able to construct conclusions, rules, and predictions about the behavior of the biological system to which the principles apply. Accordingly, I sprinkle the text of the book with lots of "rules" that follow logically from the first principles of the rare diseases.

The term "rule", in this context, means observations that are generally true. Biology is more messy than geometry. In the book, when the rules are discussed, I might include counter-examples and constraints. The rules are primarily intended to encourage readers to think critically about the subject matter.

There are more than 125 biological "rules" of rare diseases listed through the book. Each rule is followed by a very brief rationale. The rationale for each rule is fully developed in the chapters. I thought it would be fun to construct a button that searches the book, and pulls out a rule randomly from the text, for display in a window. By repeatedly hitting the button, each time it refreshes itself, you can read all the rules contained in the book (if you'd like).

I urge you to read more about this book. There's a good preview of the book at the Google Books site. If you like the book, please request your librarian to purchase a copy of this book for your library or reading room.

- Jules J. Berman, Ph.D., M.D.