by Dr. Hsien-Hsien Lei
Posted August 17, 2009 in Books About DNA
Before it was possible to study the genetics of complex diseases on a genome-wide scale, most talk of genetic diseases looked at those caused by single gene mutations or chromosomal abnormalities. Taking a step back to what might appear to be simpler times, medical geneticist Dr. Robert Marion’s new book, Genetic Rounds, is due out in October.
But even if the genetic basis of diseases such as mucopolysaccharidoses, trisomy 13, acute intermittent porphyria, and spinal muscular atrophy might have been easier to elucidate, that doesn’t mean diagnosing or treating the patients is any easier. In Genetic Rounds, Dr. Marion explains the causes and symptoms of various genetic diseases in clear, easy-to-understand language (as is his forte – see Was George Washington Really the Father of Our Country?: A Clinical Geneticist Looks at World History).
As has been the case for its entire history, most of the practice of medical genetics comes down to the clinician sitting in the clinic with the family, listening to the history, performing the physical exam, and trying to put the pieces of the puzzle together.
Even more enlightening, Dr. Marion reflects on his encounters with the children affected by these devastating illnesses and their families who must cope with the stress involved in taking care of them. I was especially touched by his holistic and empathetic approach as a physician. Any of us who’ve been fortunate enough to have had a doctor who cared about us beyond our acute symptoms and the few minutes in their clinic knows what a rare gift that is.
Many of the essays included in the book were previously published in Discover magazine and The American Journal of Medical Genetics among others. Dr. Marion updates a number of them with news on how the patient and family are doing as well as how his views and feelings changed over the years. Although a couple of essays seem a little out of place in a book about genetic diseases, I still found them all very enjoyable. Genetic Rounds is a must-read for anyone with a connection to genetics and would be an intriguing read for anyone with a passing interest as well.
This week, I will be posting a multi-part interview with Dr. Robert Marion. He is as nice via email as he seems in the book. If you’ve ever had a chance to meet him, please share your story in the comments!
Dr. Robert Marion on Physician Knowledge of Genetics...
Dr. Robert Marion on Complex Genetic Diseases...
Dr. Robert Marion on Direct-to-Consumer Genetic Testing...
Medical Geneticist Dr. Robert Marion on Writing...
Dr. Robert Marion on Preimplantation Genetic Diagnosis...
Eye on DNA Hosting Grand Rounds...
Eye on DNA Links – May 29, 2007...
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