Disease complexity: rare diseases and 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. In most cases, rare genetic diseases are produced by a single mutation in a single gene, to produce a rare disease that typically develops early in life, often with a rather uniform clinical presentation. In Chapter 7, some of the complexities of single-gene disorders are discussed. Here is an excerpt: A single gene may produce a protein product whose function varies depending on the specific site and type of mutation in the gene. Hence, variations in a gene can produce different diseases. For example, different mutations of the same gene, desmoplakin, cause the following diseases: - Arrhythmogenic right ventricular dysplasia-8 - Dilated cardiomyopathy with woolly hair and keratoderma - Lethal acantholytic epidermolysis bullosa - Keratosis palmoplantaris striata II - Skin fragility-woolly hair syndromeIn some cases, variation in the sites of mutations in a gene does not produce different diseases, but may account for one disease with different levels of severity. For example, in the case of Wiskott–Aldrich syndrome, discussed in Section 7.1, mutations that truncate the protein product of the WAS gene will produce severe disease, while mutations that produce changes in single amino acids, withou...
Source: Specified Life - Category: Pathologists Tags: Beckwith-Wiedemann common disease complex diseases disease complexity genetics of disease monogenic disease orphan disease orphan drugs polygenic disease rare disease Wiskott-Aldrich Source Type: blogs