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The Boy Who Wasn’t Short: human stories from the revolution in genetic medicine by Edwin Kirk

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Description

A geneticist tells the stories of men, women, and children whose genes have shaped their lives in unexpected ways.

It was while listening to a colleague tell the parents of a newborn girl that their daughter was going to die that a lifelong interest in genetic medicine was sparked in Dr Edwin Kirk. Warmth and gentleness tempered a direct, sure manner - this was the medicine he wanted to practise, where the most advanced science and the most deeply human meet. Twenty-five years later, Dr Kirk works both with patients and in the lab, and he spearheads a campaign that will change the way we think about having babies. His experience is without parallel, but it is his humour and insight that make all the difference.

Find out why Dr Kirk found himself among hundreds of people, each with a glass of poison in front of them - and how you might perform the same experiment yourself (without the poison). Learn how the realisation that a young boy wasn't short ended up saving the life of his mother - and how Angelina Jolie has saved the lives of many more. Sit in the room with Dr Kirk and his patients as they navigate the world of heartbreaking uncertainties, tantalising possibilities, and thorny questions of morality. In genetics, it is the particularities of an individual's history that matter, and here, in clear and considerate writing, those individual stories are given voice.



About the Author
Professor Edwin Kirk is both a clinical geneticist and a genetic pathologist, a rare combination. As a clinician, he sees patients at Sydney Children's Hospital, where he has worked for more than 20 years; his laboratory practice is in the New South Wales Health Pathology Genomics Laboratory at Randwick. Kirk is a conjoint appointee in the School of Women's and Children's Health at the University of New South Wales, an experienced medical educator, and currently Chief Examiner in Genetics for the Royal College of Pathologists of Australasia. He is also a respected researcher, working in the fields of cardiac genetics, metabolic diseases, and intellectual disability, as well as studying reproductive carrier screening, and is a co-author of more than 100 publications in scientific journals, which have been cited by other researchers more than 4,000 times. He is one of the co-leads and public faces of the $20 million Mackenzie's Mission carrier screening project. Kirk lives in Sydney with his wife and three children. In his spare time, he competes in ocean swimming races, slowly, and plays the saxophone, loudly.

Reviews

'This is an excellent book that explores the history, ethics, patient stories, and explanations of science in a sensitive and relatable way. It is a very readable book that does not overwhelm the reader with scientific facts. It takes a complicated topic in medicine and makes genetics accessible to a wider audience.'

-- Judges' citation from the 2022 BMA medical book awards

'Admirable ... With great precision and detail, Dr Kirk explores the unexpected ways in which our genes shape our lives ... A renowned geneticist, Kirk is also a capable writer. He is humorous, modest, insightful, and humane.'

-- Kevin O'Sullivan * Irish Examiner *

'This new book sets out to share the experiences and anecdotes of a career in genetic medicine more than two-decades long, while narrating segments of the history of genetic pathology and exploring the world of genes today and to come ... Kirk makes effective use of footnotes to deflate the academic style and maintain a sense of personality and fun.'

-- David Ferrell * Canberra Times *

'Both an account of the human stories at the heart of Kirk's practice and a beginner's guide to genetic medicine, The Genes That Make Us tells of the significant progress that has been made in genetics over the past two decades, while also signalling how far there is left to travel.'

-- Diane Stubbings * Australian Book Review *


Awards
Winner of BMA Medical Book Award, Popular Medicine 2022 (UK).



Book Information
ISBN 9781912854363
Author Edwin Kirk
Format Paperback
Page Count 288
Imprint Scribe Publications
Publisher Scribe Publications

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