Rare Diseases Account for Subsets of Common Diseases

In June, 2014, my book, entitled Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases was published by Elsevier. The book builds the argument that our best chance of curing the common diseases will come from studying and curing the rare diseases. One of the key messages of the book is that common diseases are complex, with multiple causes, lots of associated gene variations, many different aberrant pathways, and affecting heterogeneous populations (e.g., subsets of people who seem to have clinically distinctive forms of the same disease, or subsets of people who respond quite differently to the same treatment). Contrariwise, rare diseases are usually simple: one cause, one responsible gene, one aberrant pathway, often strikingly uniform clinical features. In Chapter 12, I build the case that particular subsets of the common diseases can often be accounted for by rare diseases. Rare diseases that account for subsets of common diseases typically have a monogenic cause, and occur at a young age (as we see in most other rare diseases). An example would be midline lung cancer of the young, a rare subset of lung cancer caused by a mutation in the NUT gene. Here is an excerpt from Chapter 12, in which rare diseases accounting for subsets of some of the common diseases, are listed:- MODY (maturity onset diabetes of the young), also known as monogenic diabetes, refers to any of several hereditary forms of the disease. Despite its name, MODY h...
Source: Specified Life - Category: Pathologists Tags: cellular pathways common genetic disease complex diseases disease pathways heterogeneous subsets of disease orphan diseases orphan drugs rare diseases Source Type: blogs