Portal:RareDisease

From WikiPathways

Jump to: navigation, search

edit  

Rare Disease pathways at WikiPathways

This portal highlights WikiPathways content related to rare genetic human diseases, and is designed

as a central organizing point for exploring, curating and expanding the collection of rare disease pathways.
Image on right

A rare or orphan disease is a disease which affects relatively few people. The exact definition varies between 1:1000 and 1:200.000. E.g. it can be 1:1500 (USA) , 1:2000 (EU) or 1:2500 (Japan). Rare diseases are mostly caused by genetic variation making them chronic and hard to cure. The severity depends on the affected gene and its physiological implications.

This portal is funded by:

Image on left
Image on left
Image on left


edit  

Get information

Explore rare disease pathways on WikiPathways:

edit  

Get involved

Contact us

Send questions about WikiPathways to the wikipathways-discuss mailing list.

How to add a pathway to the portal

The list of Featured Pathways is not static and can be updated at any time. If you know of a pathway that should be added, please contact the administrator.

edit  

Featured Pathway

edit  

Special Issue: Workshop planned

We are currently planning to have a workshop and training event on the making of and curation of rare disease pathways organized by the EJP-RD. The workshop will take place 26. - 29.11.2019 in Maastricht University, location Randwyck(how to get there: http://www.euhea2018.eu/venue/travel_to_mecc_maastricht).

Draft scope

  • making of rare disease pathways
  • making of AOP pathways
  • data analysis using pathways
  • FAIR data analysis workflows and results

Let us know if you are interested by mail.

edit  

Pathways from Blau et al.


Purine metabolism (Homo sapiens)

Purine metabolism
Purine metabolism

View all Pathways digitized from Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Blau et al.


How to add a pathway to the portal

The list of Featured Pathways is not static and can be updated at any time. If you know of a pathway that should be added, please contact Denise Slenter.


edit  

Funding

This project has received funding from the European Union’s Horizon 2020 research and innovation programme.

The logo of the EU


Personal tools