Rare Diseases Hiding Among 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. Here is an excerpt from Chapter 12:It is easy to find cases wherein a rare disease accounts for a somewhat uncommon clinical presentation of a common disease. 12.1.2 Rule—Uncommon presentations of common diseases are sometimes rare diseases, camouflaged by a common clinical phenotype. Brief Rationale—Common diseases tend to occur with a characteristic clinical phenotype and a characteristic history (e.g., risk factors, underlying causes). Deviations from the normal phenotype and history are occasionally significant.Rare diseases may produce a disease that approximates the common disease; the differences being subtle findings revealed to the most astute observers. Here is some pithy wisdom that senior physicians love to impart to junior colleagues: “When you see hoof prints, look for horses, not zebras.” The message warns young doctors that most clinical findings can be accounted for by common diseases. Nonetheless, physicians must understand that zebras, unlike unicorns and griffins, actually exist. Occasionally, a rare disease will present with the clinical phenotype of a common disease. For example, mutations of the JAK2 gene are involved in several myeloproliferative conditions, includin...
Source: Specified Life - Category: Pathologists Tags: common disease cryptic disease disease genetics genetics of common diseases genetics of complex disease orphan disease orphan drugs rare disease subsets of disease Source Type: blogs