The Family Gene

A riveting medical mystery about a young woman’s quest to uncover the truth about her likely fatal genetic disorder that opens a window onto the exploding field of genomic medicine When Joselin Linder was in her twenties her legs suddenly started to swell. After years of misdiagnoses, doctors discovered a deadly blockage in her liver. Struggling to find an explanation for her unusual condition, Joselin compared the medical chart of her father—who had died from a mysterious disease, ten years prior—with that of an uncle who had died under similarly strange circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms similar to hers before her death. Clearly, this was more than a fluke. Setting out to build a more complete picture of the illness that haunted her family, Joselin approached Dr. Christine Seidman, the head of a group of world-class genetic researchers at Harvard Medical School, for help. Dr. Seidman had been working on her family’s case for twenty years and had finally confirmed that fourteen of Joselin’s relatives carried something called a private mutation—meaning that they were the first known people to experience the baffling symptoms of a brand new genetic mutation. Here, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. Digging into family records and medical history, conducting interviews with relatives and friends, and reflecting on her own experiences with the Harvard doctor, Joselin pieces together the lineage of this deadly gene to write a gripping and unforgettable exploration of family, history, and love. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a young woman reckoning with her father’s death, her own mortality, and her ethical obligations to herself and those closest to her.

The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

"[Kolata] is a gifted storyteller. Her account of the Baxleys... is both engrossing and distressing... Kolata's book raises crucial questions about knowledge that can be both vital and fatal, both pallative and dangerous." —Andrew Solomon, The New York Review of Books New York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw. The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out. If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family’s destiny.

What does it mean to be called as a husband, a wife, a parent, a child? How does the grace of the gospel impact how we carry out our particular calling? How does God's presence influence the struggles that families face? Gene Veith joins forces with his daughter Mary Moerbe to explore these kinds of questions as well as the roles of calling and vocation in family life. Though we have little control over who is in our family (other than choosing a spouse and deciding to have children), God has placed us with specific people for specific reasons. Veith and Moerbe show how our roles are distinct and important to God's plan for our lives—and that when we have a biblical understanding of those roles in our families, we can move away from common dysfunctions and toward forgiveness and healing. Writing with sensitivity and wisdom, Veith and Moerbe address the common problems facing contemporary families: the crosses, the weaknesses, and the uncertainties. They articulate a compelling, biblical paradigm for creating and sustaining loving and forgiving families who maintain hope in the face of cultural pressure. This book is an important resource for all Christians, including pastors, counselors, and those working in family ministry.

Originally published: Great Britain: Short Books, 2013.

The Gene Book: Explorations in the Code of Life is designed to introduce undergraduate college students to foundational concepts in genetics. The text provides in-depth coverage of the essential principles of genetics, from Mendel to molecular gene therapy, and reads like a story, guiding readers through each of these areas in an interesting, engaging, and enlightening way. Milestone scientific discoveries introduce conceptual topics in each of the 10 chapters. The significance of each genetics paradigm is reinforced by the meaningful research context in which it is placed, whether the focus is single gene inheritance of disorders such as PKU and cystic fibrosis, or more complex genetic phenomena. Chromosomes, cell division, and cytogenetic disorders, including Down Syndrome and leukemia, are presented in a riveting historical context. In addition, the principles of molecular genetics are a major focus of this book. Students learn about the double helix, DNA replication, gene expression, mutation, natural selection, genomics, and the tools of molecular DNA analysis. Approachable and effective, The Gene Book is a highly readable comprehensive text on genetics principles designed to highlight essential concepts that make up their very core. The text is well suited to undergraduate genetics courses and can also be used as a primer for more advanced undergraduate and graduate courses in medical or molecular genetics.

#1 NEW YORK TIMES BESTSELLER • OPRAH’S BOOK CLUB PICK • ONE OF GQ's TOP 50 BOOKS OF LITERARY JOURNALISM IN THE 21st CENTURY • The heartrending story of a midcentury American family with twelve children, six of them diagnosed with schizophrenia, that became science's great hope in the quest to understand the disease. "Reads like a medical detective journey and sheds light on a topic so many of us face: mental illness." —Oprah Winfrey Don and Mimi Galvin seemed to be living the American dream. After World War II, Don's work with the Air Force brought them to Colorado, where their twelve children perfectly spanned the baby boom: the oldest born in 1945, the youngest in 1965. In those years, there was an established script for a family like the Galvins--aspiration, hard work, upward mobility, domestic harmony--and they worked hard to play their parts. But behind the scenes was a different story: psychological breakdown, sudden shocking violence, hidden abuse. By the mid-1970s, six of the ten Galvin boys, one after another, were diagnosed as schizophrenic. How could all this happen to one family? What took place inside the house on Hidden Valley Road was so extraordinary that the Galvins became one of the first families to be studied by the National Institute of Mental Health. Their story offers a shadow history of the science of schizophrenia, from the era of institutionalization, lobotomy, and the schizophrenogenic mother to the search for genetic markers for the disease, always amid profound disagreements about the nature of the illness itself. And unbeknownst to the Galvins, samples of their DNA informed decades of genetic research that continues today, offering paths to treatment, prediction, and even eradication of the disease for future generations. With clarity and compassion, bestselling and award-winning author Robert Kolker uncovers one family's unforgettable legacy of suffering, love, and hope.

Queen Victoria's son, Prince Leopold, died from haemophilia, but no member of the royal family before his generation had suffered from the condition. Medically, there are only two possibilities: either one of Victoria's parents had a 1 in 50,000 random mutation, or Victoria was the illegitimate child of a haemophiliac man. However the haemophilia gene arose, it had a profound effect on history. Two of Victoria's daughters were silent carriers who passed the disease to the Spanish and Russian royal families. The disease played a role in the origin of the Spanish Civil War; and the tsarina's concern over her only son's haemophilia led to the entry of Rasputin into the royal household, contributing directly to the Russian revolution.

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation but also experience related conditions themselves. In such cases, carriers can have tremors, infertility, and psychiatric disorders that complicate raising children with fragile X syndrome—and all too often, they suffer in silence. The Carriers investigates this common but still little-known genetic condition and its life-altering consequences. Anne Skomorowsky reveals how this disorder afflicts families across generations, telling the stories of the mothers and grandparents of fragile X patients and considering how genes interact with family dynamics. She interweaves the personal narratives and family histories of the people affected by fragile X disorders with clear and accessible explanations of the science behind them. Skomorowsky unpacks the latest research on the fragile X mutation and explores the history of its discovery. She highlights the roles of women as carriers, caregivers, and researchers who have made astonishing scientific breakthroughs over the last three decades. The Carriers is an essential book for fragile X families, including those just learning they are carriers, and for all readers interested in the complexities of heredity, the ethical dilemmas of genetic medicine, and the relationship between genes and personality.

HAVE YOU EVER wondered what makes you, You? Join Poppy on her journey into the fascinating world of her genetics. Learn how Poppy's genes created her red hair and blue eyes -- and trace these traits through her family tree. Poppy's genes are not the only things that help make her unique. discover, with Poppy, how your genes and the world around you can shape who you are. - What makes you unique? - Why do you look like your family? - What do genes have to do with it? Join Poppy to find out answers to these questions and more.