1.Are We Ready to Use the Omics Strategies for Precision Medicine?.
International Neurourology Journal 2016;20(Suppl 2):S65-S67
No abstract available.
Precision Medicine*
2.Whole-exome sequencing in the clinical setting: Establishing a foothold for precision medicine in genodermatoses and other diseases
Yu-Chen Lin ; Wilson Jr. F. Aala ; Bryan Edgar K. Guevara ; Rosa Beatriz S. Diaz ; Chao-Kai Hsu
Journal of the Philippine Dermatological Society 2021;30(2):4-8
The concept of “precision medicine” has been a mainstay in discourses about the future of medicine, although it was not until
the completion of the Human Genome Project that genetic associations to Mendelian diseases have risen dramatically. Since
genetic variations in most (85%) monogenic or oligogenic diseases reside in exons, whole-exome sequencing (WES) serves
as a pivotal tool in the identification of causative variants in genodermatoses and other diseases, leading to efficient and
timely diagnosis. Here, we share our current diagnosis protocol for genodermatoses using WES as a first-tier solution. Two
cases are presented to demonstrate the process of identifying germline variants and one case for a somatic variant. In the
first case, a germline missense mutation in COL7A1 (exon73:c.G6127A) was identified for a patient that presented with clinical
symptoms of dystrophic epidermolysis bullosa (DEB). Immunofluorescence study revealed decreased collagen VII expression in
the dermal-epidermal junction. In case 2, we detected a germline missense mutation in KRT16 (exon1:c.374A>G) in a patient with
palmoplantar keratoderma (PPK) and congenital pachyonychia. Sanger sequencing and segregation analysis confirmed the
variant detected in WES. For case 3, a patient with linear nevus comedonicus was found to have a somatic missense mutation
in NEK9 (exon4:c.500T>C), which was only detected in the lesional DNA sample. Thus, WES shows great potential as a diagnostic
tool for monogenic or oligogenic genodermatoses. Since omics is a technology-driven tool, we expect that reaching precision
medicine is ever closer.
Precision Medicine
3.Nuclear Medicine in the Era of Precision Medicine
Korean Journal of Nuclear Medicine 2017;51(2):99-100
No abstract available.
Nuclear Medicine
;
Precision Medicine
4.Effective Strategies for Managing Asthma Exacerbations for Precision Medicine.
Allergy, Asthma & Immunology Research 2017;9(6):463-465
No abstract available.
Asthma*
;
Precision Medicine*
5.Precision medicine: Towards complexity science age.
Chinese journal of integrative medicine 2016;22(4):251-257
Precision medicine (PM) refers to the tailoring of the prevention and treatment strategies to the individual characteristics of each patient. Following the vigorous advocacy of the U.S. President Obama and China's President Xi, PM has now become a hot topic of common concern worldwide. PM does not merely refer to the skill set level but rather a comprehensive medical methodology. Hence, there is PM that builds on the analytical methodology of Western medical system as well as PM that builds on Chinese medicine (CM). The differences between the two systems, fundamentally speaking, are the differences in methodology to describe the body constitution that based on reductionism and holism. Today, as science advances to complex systems, the mainstream analytical reductionism advances to the holistic synthesis era, it is imperative to introduce CM's holistic body constitution to the modern medical system in order to progress to PM. PM with its foundation on holistic body constitution, is a medical system that integrates Western medicine and CM, is the highest attainment of "PM" in the future.
Humans
;
Precision Medicine
;
Science
6.Definition and application of precision medicine.
Zheng-Guo WANG ; Liang ZHANG ; Wen-Jun ZHAO
Chinese Journal of Traumatology 2016;19(5):249-250
"No abstract".
Humans
;
Precision Medicine
7.Sulfonylurea: Personalized Medicine for Type 2 Diabetes.
Endocrinology and Metabolism 2015;30(4):467-468
No abstract available.
Humans
;
Precision Medicine*
10.Radiomics as a Quantitative Imaging Biomarker: Practical Considerations and the Current Standpoint in Neuro-oncologic Studies
Korean Journal of Nuclear Medicine 2018;52(2):99-108
Radiomics utilizes high-dimensional imaging data to discover the association with diagnostic, prognostic, predictive endpoint or radiogenomics. It is an emerging field of study that potentially depicts the intratumoral heterogeneity from quantitative and classified high-throughput data. The radiomics approach has an analytic pipeline where the imaging features are extracted, processed and analyzed. At this point, special data handling is essential because it faces issues of a high-dimensional biomarker compared to a single biomarker approach. This article describes the potential role of radiomics in oncologic studies, the basic analytic pipeline and special data handling with high-dimensional data to facilitate the radiomics approach as a tool for personalized medicine in oncology.
Population Characteristics
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Precision Medicine