منابع مشابه
Precision medicine for managing chronic diseases.
Precision medicine (PM) is an important modern paradigm for combining new types of metrics with big medical datasets to create prediction models for prevention, diagnosis, and specific therapy of chronic diseases. The aim of this paper was to differentiate PM from personalized medicine, to show potential benefits of PM for managing chronic diseases, and to define problems with implementation of...
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BACKGROUND Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. Our objective is the implementation of a Precision Medicine (PM) approach to AKU. We present here a novel ApreciseKUre database facilitating the collection, integra...
متن کاملPrecision medicine, technologies, and molecular diagnostics
Introduction: Genetics, cellular and molecular medicines are cutting-edge sciences and technologies that play an important role in improving human health and quality of life. In addition, medical and biological sciences have clearly shown that the onset of diseases differs from person to person due to their different genetic profiles and variations in molecular basis. Therefore, it is feasible ...
متن کاملUltra-rare Disease and Genomics-Driven Precision Medicine
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported...
متن کاملeRAM: encyclopedia of rare disease annotations for precision medicine
Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of deciphering genes and realizing the precision medicine for rare diseases. Here, we preset a standard...
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ژورنال
عنوان ژورنال: Diseases
سال: 2020
ISSN: 2079-9721
DOI: 10.3390/diseases8040042