Titlebook: Rare Diseases in the Age of Health 2.0; Rajeev K. Bali,Lodewijk Bos,Simon Ibell Book 2014 Springer-Verlag Berlin Heidelberg 2014 Disease D

ADORN

Alpha-Cells

Book 2014.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Sputum

Health 2.0 and Information Literacy for Rare and Orphan Diseasesth information and emotional support for people with rare diseases. Areas currently being given consideration for future coordination are briefly reviewed as part of the development of information literacy in rare and orphan diseases.

Gourmet

Why R&D into Rare Diseases Matteres are not confined to Europe and the US, but affect people all over the world, and consequently represent a true global health issue. As such there can be no doubt that R&D into rare diseases matter. Specific orphan drug legislations across the globe have been introduced to stimulate the pharmaceut

OMIT

Vignette: Autoimmune Polyendocrine Syndrome Type I (APS 1)sively, in the endocrine system. It is a genetic disorder associated with a defect in the . gene. Currently, it is believed that APS 1 attacks one in 2,000,000 people: approximately 17 in Canada, and 160 or so in the United States. While it can attack many tissues in the body, it is best known as a

停止偿付

Rare Diseases: How Genomics has Transformed Thinking, Diagnoses and Hope for Affected Families genome sequencing and whole exome sequencing of genomes—to diagnose phenotypically complex monogenic diseases in a significant number of cases. A pan-Canadian initiative launched in 2011 (FORGE) has developed a highly sophisticated and productive pipeline that has identified the causative genes for

钳子

Vignette: A Giant of a Man: Simon Ibell (MPS II)s later before I felt the pain of hearing that Simon had a rare and incurable disease: MPS II or Hunter Syndrome. A few minutes of doctor’s explanation and my world came crashing down; I was powerless to express the simplest words, I wanted to scream. As I left that meeting with the doctors, there w

Lyme-disease

Innovative Funding Models for Rare Diseasese disease research, it is a very difficult task for a central, top–down entity to create and fund research for so many different diseases. With the traditional research model, therapies have been developed for less than 500 of these diseases, meaning that more than 9 in 10 diseases do not have any t

勉强

Rare Diseases: The Medical and the Disability Perspectives in the Age of 2.0improve the visibility and hence research on rare diseases by examining how they are conceptualized and represented in contemporary health care communities. Such conceptualizations are framed in terms of two models, the medical model, which prevails in the medical and scientific literature, and the

SMART

Vignette: Taking Control of Thalassemia was a happy-go-lucky baby, always smiling and moving her arms around. Then, one day I noticed a difference. I went to a party and saw another baby her age there, laughing and so happy. I thought about how Cassandra was usually as happy, but that lately, she cried more often and just seemed lethargi