This year’s Rare Disease Day is focussing on the theme of research, and we here at Orphanet Journal of Rare Diseases are inspired by its 2017 slogan; ‘With research, possibilities are limitless’. The importance of this truth cannot be overstated, as continual research is necessary in order to unlock the mysteries often presented by rare diseases. In a field where concrete solutions are not immediate, it is essential to mine the different research we already have, to make connections where none existed previously; to complement that information with new findings; and to listen to the voices of rare disease patients, who often provide the foundations of what is known about these medical enigmas.
Take a look below to see our material that fits into this year's theme.
Raremark's Sarah Venugopal (Head of Engagement and Communication) speaks to the significance of patient-led research for rare diseases:
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui and Christine Bellanné Chantelot
Published on: 19 May 2011
Springer Healthcare IME
We are pleased to announce the launch of a new independent educational resource created by Springer Healthcare IME for the rare disease, Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID).
Launched on Rare Disease Day 2017, the ADA-SCID portal is designed to educate healthcare professionals who are presented with ADA-SCID patients, in the biology of the disease, how to screen for it, and current and emerging treatments.
New Horizons in the Management of ADA-SCID aims to facilitate this understanding by providing direct access to the latest research and commentary in the form of:
ver historia personal en: www.cerasale.com.ar [dado de baja por la Cancillería Argentina por temas políticos, propio de la censura que rige en nuestro medio]//
weblog.maimonides.edu/farmacia/archives/UM_Informe_Autoevaluacion_FyB.pdf - //
weblog.maimonides.edu/farmacia/archives/0216_Admin_FarmEcon.pdf - //
www.proz.com/kudoz/english_to_spanish/art_literary/523942-key_factors.html - 65k - // www.llave.connmed.com.ar/portalnoticias_vernoticia.php?codigonoticia=17715 // www.frusculleda.com.ar/homepage/espanol/activities_teaching.htm // http://www.on24.com.ar/nota.aspx?idNot=36331 ||