The Genes That Make Us: Human stories from a revolution in medicine

Description

Genes - we all have them and we're all affected by them, often in unknown ways. Whether directly inherited or modified by our environment, genes control or significantly influence almost every aspect of our lives. From the success of our conception and the development of our sexual characteristics, to the colour of our skin, hair, and eyes. From our height and weight, to our daily health. And, unfortunately, our genes are involved in an untold number of diseases. For many, the first time that genetics truly matters is in a doctor's office as they learn about a condition that may affect them, their unborn children, or even their wider family. Yet from the first laborious survey of the human genome twenty years ago to the commercial machines that now sequence 6,000 genomes per year, a revolution is taking place in medicine. Genetic screening is already available for major diseases and will become an increasingly prevalent medical tool. Around the world, teams of researchers are working on cures for diseases such as cancer, certain degenerative disorders, and a host of syndromes, while others are inventing new ways to conceive - and even modifying our genome in ways that could change what it means to be human. Navigating this world of heartbreaking uncertainties, tantalising possibilities, and thorny questions of morality is Professor Edwin Kirk, who in addition to having over two decades of experience is that rare doctor who works both in the lab and with patients. In The Genes That Make Us, he explains everything you need to know with humour, insight, and great humanity.

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.