Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

Autor: Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)

Abstract Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A g

Externí odkaz: https://doaj.org/article/6511fb647b634113bca47862786d9736

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

Autor: Wang, Chiuhui Mary¹ (AUTHOR) mary.wang@rarediseasesint.org, Whiting, Amy Heagle¹ (AUTHOR), Rath, Ana² (AUTHOR), Anido, Roberta³ (AUTHOR), Ardigò, Diego⁴ (AUTHOR), Baynam, Gareth⁵ (AUTHOR), Dawkins, Hugh⁶ (AUTHOR), Hamosh, Ada⁷ (AUTHOR), Le Cam, Yann⁸ (AUTHOR), Malherbe, Helen^9,10 (AUTHOR), Molster, Caron M.¹¹ (AUTHOR), Monaco, Lucia¹² (AUTHOR), Padilla, Carmencita D.¹³ (AUTHOR), Pariser, Anne R.¹² (AUTHOR), Robinson, Peter N.¹⁴ (AUTHOR), Rodwell, Charlotte² (AUTHOR), Schaefer, Franz¹⁵ (AUTHOR), Weber, Stefanie¹⁶ (AUTHOR), Macchia, Flaminia¹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 9/11/2024, Vol. 19 Issue 1, p1-6. 6p.

Global Perspectives on Precision Medicine : Ethical, Social and Public Health Implications

Autor: Evangel Sarwar

This book presents the promises of Precision Medicine (PM) and the challenges of its implementation in daily clinical routine, while addressing the anticipated ethical and social implications. It is the first book that critically analyzes the potent