圖書標籤: 精準醫療 基因組 切麵 DNA測序 *科普/普及
发表于2024-11-23
One in a Billion pdf epub mobi txt 電子書 下載 2024
The breathtaking story of a young boy with a never-before-seen disease, and the doctors who take a bold step into the future of medicine to save him—based on the authors’ Pulitzer Prize–winning reporting.
In this landmark medical narrative, in the tradition of The Immortal Life of Henrietta Lacks and The Spirit Catches You and You Fall Down, Pulitzer Prize–winning journalists Mark Johnson and Kathleen Gallagher chronicle the story of Nic Volker, the Wisconsin boy at the center of a daring breakthrough in medicine—a complete gene sequencing to discover the cure for an otherwise undiagnosable illness. At just two years old, Nic experienced a searing pain that signaled the awakening of a new and deadly disease, one that would hurl Nic and his family up against the limits of modern medicine.
For years, through false starts and failed cures, Nic holds on to life, buoyed up by his mother’s fierce drive to get him the care he needs. But when even the world’s experts are stumped by Nic’s illness, his doctors come up with a radical, long-shot plan: a step into the unknown.
The next major scientific frontier, following the completion of the Human Genome Project, was to figure out how to use our new knowledge to save lives—to bring genomic or personalized medicine into reality. It’s a quest that is undertaken by researchers around the world. But it is only when geneticist Howard Jacob hears about young Nic that the finish line finally comes into sight: It’s no longer a race to make history. It’s a race to save this boy’s life.
One in a Billion is an unforgettable tale of the lives that converged to launch a medical revolution. As pioneering geneticist Mary-Claire King pronounced upon learning Nic’s story: “It was as if one had heard about Case Zero of AIDS and the cure, all at once.”
Mark Johnson is a health and science reporter at the Milwaukee Journal Sentinel, where he has worked since 2000. He was a member of the Journal Sentinel team that won the Pulitzer Prize for explanatory reporting on the Nic Volker story in 2011. He is also a three-time finalist for the Pulitzer Prize and has won numerous other awards for his reporting. He lives with his wife and son in Fox Point, WI.
Kathleen Gallagher is a business reporter at the Milwaukee Journal Sentinel, where she has worked since 1993. She was a member of the Journal Sentinel team that won the Pulitzer Prize for explanatory reporting on the Nic Volker story in 2011. She was also part of a team that won the 2006 Inland Press Association award for explanatory reporting. She lives with her husband and two children in Wauwatosa, WI.
洋洋灑灑扯瞭一個病例,牽齣人類基因組學發展至今的曆史,主要的推動人,技術的更新,從一個概念到人類基因組譜的獲得,再進階用來指導個性化診斷的案例。描寫病人傢屬的心理細節詳實,但是技術乾貨不多。個性化診斷後的治療依然是骨髓移植,略缺乏創意,但能把病人救活纔是正理啊!
評分洋洋灑灑扯瞭一個病例,牽齣人類基因組學發展至今的曆史,主要的推動人,技術的更新,從一個概念到人類基因組譜的獲得,再進階用來指導個性化診斷的案例。描寫病人傢屬的心理細節詳實,但是技術乾貨不多。個性化診斷後的治療依然是骨髓移植,略缺乏創意,但能把病人救活纔是正理啊!
評分洋洋灑灑扯瞭一個病例,牽齣人類基因組學發展至今的曆史,主要的推動人,技術的更新,從一個概念到人類基因組譜的獲得,再進階用來指導個性化診斷的案例。描寫病人傢屬的心理細節詳實,但是技術乾貨不多。個性化診斷後的治療依然是骨髓移植,略缺乏創意,但能把病人救活纔是正理啊!
評分洋洋灑灑扯瞭一個病例,牽齣人類基因組學發展至今的曆史,主要的推動人,技術的更新,從一個概念到人類基因組譜的獲得,再進階用來指導個性化診斷的案例。描寫病人傢屬的心理細節詳實,但是技術乾貨不多。個性化診斷後的治療依然是骨髓移植,略缺乏創意,但能把病人救活纔是正理啊!
評分洋洋灑灑扯瞭一個病例,牽齣人類基因組學發展至今的曆史,主要的推動人,技術的更新,從一個概念到人類基因組譜的獲得,再進階用來指導個性化診斷的案例。描寫病人傢屬的心理細節詳實,但是技術乾貨不多。個性化診斷後的治療依然是骨髓移植,略缺乏創意,但能把病人救活纔是正理啊!
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One in a Billion pdf epub mobi txt 電子書 下載 2024