Contribucions a ORPHANET / Contribuciones a ORPHANET / Contributions to ORPHANET

La Dra. Mayka Sanchez forma parte de la comisión Europea y Española de Orphanet y ha redactado en inglés los abstracts de 8 enfermedades raras:

1. IRIDA: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=209981

2. Anemias diseritropoyeticas congénitas (CDA), incluido CDA 1, 2, 3, 4 y CDA con trombocitosis)

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=67044

3. Atransferrinemia:

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1195

Además ha contribuido en la validación de múltiples traducciones del inglés al castellano para este portal.

Marca Registrada Europea / European Trade Mark

Marca Registrada Europea HIGHFERRITIN: Con ayuda de la Asociación de pacientes de Hemocromatosis AEH www.hemocromatosis.es se ha procedido a registrar en fecha 18/05/2015 HIGHFERRITIN y su diseño como marca Registrada Europea (referencia TM1480EU00, marca comunitaria numero 1409369) en las clases 5,9,42 y 44.

Eines de Telemedicina / Herramientas de Telemedicina / Telemedicine Tools

We have created the telemedicine web tool for the diagnosis and management of patients with hyperferritinemia HIGHFERRITIN, http://highferritin.imppc.org. We are collecting patient data for a future study on the causes of hyperferritinemia. We are proceeding to make an app app for mobile phones and tablets to make this telemedicine tool more accessible to medical doctors.

BEA (BioMark Expression Analysis) application

BEA is an R / Shine-based desktop application designed to analyze real-time qPCR data from the BioMark HD system in multiple conditions and replicas. The analysis includes normalization (Livak et al. 2001), and appropriate statistical tests to identify differential expressed genes between the groups tested, taking into account the normality test and the number of groups. BEA will help scientists to carry out gene expression analysis in an intuitive and interactive interface. BEA can be downloaded at: https://drive.google.com/open?id=164Js2h56kOLdrPhN3XcqdOnkrhbe7GG-