Genetics for Rheumatologists: The molecular genetic basis of rheumatological disorders

The study of disease genetics arguably began in rheumatology, with the description of the hereditary basis of alkaptonuria by Garrod in 1902, and the introduction of the concept of inborn errors of metabolism. A large proportion of the diseases seen by rheumatologists have genetic influences. Some diseases are monogenic, but many are without Mendelian patterns of inheritance but nonetheless have strong hereditary influences. The dissection of the genetic basis of rheumatic diseases has moved rapidly over the past 15 years, increasing our understanding of the causation of disease, and in many cases improving diagnostic tests and the ability to advise patients about their risk of disease. Increasingly rheumatologists are being asked the question "How likely is it that my children will develop the disease I have?", and about the utility of genetic testing for those diseases. This book aims not to be a hefty tome full of genetics jargon, but a quick reference source for doctors written to help answer those questions.