We are celebrating our 23rd year of providing information about Joubert syndrome to families all over the world!

Joubert syndrome and its related disorders are rare genetic disorders characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. Joubert syndrome is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert syndrome.

The Joubert Syndrome & Related Disorders Foundation (JSRDF):

  • Is a nonprofit organization that has been providing information about the disorder to families all over the world since 1992!
  • Is an international network of parents who share knowledge, experience, and emotional support.
  • Offers a networking list, newsletter, a patient-central research registry, and a biennial conference.
  • Plays an important role in educating physicians and their support teams as well as increasing public awareness.


JSRDF Conference 2015

We are pleased to announce that the 12th Biennial Joubert Syndrome and Related Disorders Conference will be held in Chicago!  Click Here For More Details


Volunteers Needed

As we are a nonprofit organization, we are always looking for volunteers. Simply take this survey to learn how you can help!


JS-LIFE Research Challenge

JS-LIFE Research Challenge You can set the direction for Joubert Syndrome research. Mosaic is an online forum to develop medical research through crowdsourcing. Click here to begin!

JS-LIFE Research Challenge

JS-LIFE Registry

JS-LIFE, the Joubert Syndrome Link to Information and Family Exchange, is a participant-centered registry for all worldwide, to accelerate much needed research and awareness for JSRDs!! Click here to begin!

More details, FAQ on JS-LIFE here!



Please donate what you can to help

Your tax-free donation helps us fulfill our goals of SUPPORT * EDUCATE * RESEARCH for people affected by JSRDs. This website is funded entirely by private contributions made by members and friends of the JSRDFoundation, an organization run 100% by volunteers.

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