Titlebook: Rare Diseases; Integrative PPPM App Meral Özgüç Book 2015 Springer Science+Business Media Dordrecht 2015 Invivo disease models.Personalized

cauda-equina

Enzyme Replacement Therapy in Lysosomal Storage Diseases,ysosomes before expanding to most of body tissues and organs. Impaired enzyme activity, molecular trafficking and transport of these proteins resulting from genetic mutations constitute the main pathogenic mechanisms. Clinical manifestations include storage signs and symptoms such as enlarged liver

LOPE

Rare Cancers, biology have resulted in novel ways to classify cancers based upon genetic alterations and not just anatomical location, and this revised classification is at the heart of any move toward more personalized healthcare. It is now increasingly accepted that cancer should be thought of as many hundreds

alabaster

Adeno-Associated Virus Gene Therapy and Its Application to the Prevention and Personalised Treatmenene therapy and has brought this type of therapy even closer to clinical practice. There is little closer to the personalisation of medicine than the ability to repair or restore the function of a person’s own faulty genes, the core principle of gene therapy. It is therefore reasonable to argue that

异教徒

Induced Pluripotency for the Study of Disease Mechanisms and Cell Therapy, by direct cell replacement and also by paracrine effects. Advantage of iPS cells is also their unlimited availability. In this chapter we characterize the pluripotent state of cells starting from embryonic stem (ES) cells and comparing them with iPS cells. We also describe different ways of using i

harbinger

2211-3495 rial for paradigm change towards predictive, preventive and This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent “proof-of-principles”

贪婪性

Emerging Technologies for Gene Identification in Rare Diseases,hnologies based on Next Generation Sequencing (NGS) greatly facilitate the discovery of disease-causing genes, especially when coupled with efficient data-analysis strategy. Additionally, NGS is slowly entering the clinical arena as a diagnostic tool for rare diseases, drastically reducing the time required to arrive at a correct diagnosis.

水汽

Book 2015discover how advanced rare diseases healthcare provides an excellent “proof-of-principles” for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency fo

MOCK

aesthetic

冰河期