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Accurate Quantification of Chromosomal Lesions Via Short Tandem Repeat Analysis Using Minimal Amounts of DNA
Abstract: Background Cytogenetic aberrations such as deletion of chromosome 5q (del(5q)) represent key elements in routine clinical diagnostics of haematological malignancies. Currently established methods such as metaphase cytogenetics, FISH or array-based approaches have limitations due to their dependency on viable cells, high costs or semi-quantitative nature. Importantly, they cannot be used on low abundance DNA. We therefore aimed to establish a robust and quantitative technique that overcomes these shortcomings. Methods For precise determination of del(5q) cell fractions, we developed an inexpensive multiplex-PCR assay requiring only nanograms of DNA that simultaneously measures allel...
First Patients
"stories…in a smooth, clear style that’s impeccably researched"-Kirkus Starred Review "captivating,...vivid, polished storytelling"-BookLife "clearly written and beautifully presented"-IndieReader "a captivating medical history"-Foreword Clarion Review What was it like to be that patient caught in a medical crisis that sparked a medical milestone? Often marked by the desperate need to save human lives, important developments in medicine have invariably started with patients—people whose ordeals fostered the advancement of medical knowledge. This book is a collection of such stories, each chapter an enthralling view into the history of medicine, revealing the extent of human inventivene...
The Genealogy of a Gene
The history of the CCR5 gene as a lens through which to view such issues as intellectual property, Big Pharma, personalized medicine, and race and genomics. In The Genealogy of a Gene, Myles Jackson uses the story of the CCR5 gene to investigate the interrelationships among science, technology, and society. Mapping the varied “genealogy” of CCR5—intellectual property, natural selection, Big and Small Pharma, human diversity studies, personalized medicine, ancestry studies, and race and genomics—Jackson links a myriad of diverse topics. The history of CCR5 from the 1990s to the present offers a vivid illustration of how intellectual property law has changed the conduct and content of ...
CRISPR People
What does the birth of babies whose embryos had gone through genome editing mean--for science and for all of us? In November 2018, the world was shocked to learn that two babies had been born in China with DNA edited while they were embryos—as dramatic a development in genetics as the 1996 cloning of Dolly the sheep. In this book, Hank Greely, a leading authority on law and genetics, tells the fascinating story of this human experiment and its consequences. Greely explains what Chinese scientist He Jiankui did, how he did it, and how the public and other scientists learned about and reacted to this unprecedented genetic intervention. The two babies, nonidentical twin girls, were the first ...
Circulating Biomarkers In Prostate Cancer
In the era of precision oncology, liquid biopsy techniques, specifically the use of circulating tumor cells (CTCs), cell free circulating tumor DNA (ctDNA) and extracellular vesicles particularly exosomes, represent a paradigm shift in the conventional use of tissue based biomarkers. Compared to tissue biopsy, liquid biopsy is cost-effective, readily accessible and less invasive, minimizing the bias of sampling and offering the opportunity for serial monitoring. Circulating biomarkers detected in liquid biopsy (blood and urine, etc.) are helping in understanding cancer genomic landscape and evolution, thus have been largely studied in term of cancer screening, risk stratification and early d...
Rechtliche Herausforderungen moderner Verfahren der Intervention in die menschliche Keimbahn
Dieses Buch befasst sich mit der rechtlichen Bewertung von modernen Verfahren der Intervention in die menschliche Keimbahn, d.h. von gentechnischen Veränderungen am Menschen, die an die nachfolgenden Generationen weitergegeben werden. Neuartige Methoden wie die CRISPR/Cas9-Technik, der Mitochondrientransfer und die Möglichkeit der Herstellung artifizieller Gameten aus hiPS-Zellen stellen das Recht vor neue Herausforderungen. Insbesondere ist fraglich, ob die aktuell bestehenden Gesetze diese neuen Verfahren noch erfassen oder ob gesetzliche Lücken entstanden sind. Dieses Buch analysiert in diesem Zusammenhang die Rechtslage in Deutschland und Frankreich. Es behandelt dabei sowohl genetisc...
The Engineering of Sport 6
This proceedings volume of the ISEA 2006 examines sports engineering, an interdisciplinary subject which encompasses and integrates not only sports science and engineering but also biomechanics, physiology and anatomy, and motion physics. This is the first title of its kind in the emerging field of sports technology.
