One in a Billion
The Story of Nic Volker and the Dawn of Genomic Medicine
داستان ولکر نیک و طلوع پزشکی ژنومیک
گزارش تخلف
فرمت کتاب
ebook
تاریخ انتشار
2016
نویسنده
Kathleen Gallagherناشر
Simon & Schusterشابک
9781451661347
کتاب های مرتبط
- اطلاعات
- نقد و بررسی
- دیدگاه کاربران
نقد و بررسی
May 16, 2016
In this engrossing book, journalists Johnson and Gallagher expand on the story of Nic Volker, the subject of the reportage for which their Milwaukee Journal Sentinel team won a 2011 Pulitzer Prize. In 2003, an international consortium of scientists finished sequencing the human genome, a process that took more than seven years and cost more than $600 million (by 2015, the cost had dropped to less than $1,000 and took only a few hours). Volker, a toddler, was among the first patients to benefit from genome sequencing and the first to capture the hearts of the general public. Volker's intestines had been "ravaged" by tiny fistulas. As the ailment was unlike anything doctors had seen before, it was clear the standard method of testing for genetic mutationsâgene by gene, via hugely expensive testsâwould not suffice. By sequencing all 21,000 or so of his genes, investigators sussed out the right oneâa gene known as "XIAP"âand alerted Volker's parents and doctors that they'd chosen the right treatment (a bone marrow transplant). This is a moving, skillfully written book that's well positioned to introduce a broad audience to the profound clinical relevance of whole-genome and exome sequencing. Agent: Flip Brophy, Sterling Lord Literistic.
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