ISMRD Brochure

Our brochure can be downloaded here.


Doctor Database

Search the ISMRD Database for Specialists experienced with rare diseases (US Only)

Family Stories

Connect with other families who have children with these rare diseases

Useful Links

We have gathered a number of external links that maybe useful for those searching for more information.


ISMRD Newsletters are available on this page

YouTube movies from ISRMD can be viewed below

Natural History Study

In 2006 ISMRD and the Greenwood Genetic Centre began a partnership to develop and deliver the world’s first and only Natural History Study for Mucolipidosis. In 2012 at our Scientific/Family conference the study was expanded to include the other 8 diseases that we support.

The Longitudinal Studies of the Glycoproteinoses is currently recruiting patients. You can contact the Greenwood Genetic Centre directly or you can message ISMRD at