No abstract available.
Precision Medicine*

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

No abstract available.
Nuclear Medicine ; Precision Medicine

No abstract available.
Humans ; Precision Medicine*

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

"No abstract".
Humans ; Precision Medicine

No abstract available.
Asthma* ; Precision Medicine*

Humans ; Precision Medicine

Genome ; Humans ; Precision Medicine

The diagnosis and treatment of chronic refractory wounds on body surface has always been full of challenges, and it also poses a huge burden on medical care and society. High-throughput sequencing combined with omics analysis can reveal potential mechanisms of chronic wound formation, and identify potential biomarkers related to diagnosis, prognosis, and screening of chronic wound. Combined with multiple levels of omics analysis, the detailed molecular mechanism of chronic wound development can be further explored and understood, so as to provide clues for the formulation of personalized treatment methods and lay a solid foundation for the precision medicine of chronic wounds. Therefore, this review addresses the recent progress of various omics analyses in chronic refractory wounds on body surface.
Precision Medicine/methods* ; Biomarkers