JS-LIFE Research Challenge

Your ideas will set the direction for Joubert Syndrome research.

  • SHARE IDEAS Starts May 18, 2015

    1. First scroll down to see the two discussion topics
    2. Leave a comment, "like" and respond to others, "follow" discussions
    3. Your comments will influence a new research project

  • PLAN RESEARCH Summer/Fall 2015

    Research Teams now work together to draft the research plan. But they need your input! All Mosaic participants now:

    • Review the research plan
    • Ask questions
    • Offer support
    • Give suggestions to make good ideas even better
  • CONDUCT RESEARCH Spring/Summer 2016

    The Research Team conducts the study to get the answers you've been waiting for. Stay connected to:

    • See your input and comments put to action
    • Get updates on the progress or the study
  • SHARE RESULTS Fall/Winter 2016

    The study is now complete! The Research Team will post results and conclusions. All Mosaic participants now work together to make the research have an impact.

    • Share results with your community
    • Publish results in medical journals
    • Write about results in newspapers and magazines

Discussion Topics (4 total)

Displaying 1 - 4

Progress Update

Ann Chang's picture
Discussion Topic Status: 
Open for Discussion

Dear JSRDF Community,

Thank you for your patience as we have been preparing all of the data for research analysis.

As a reminder, the community previously helped to identify the following research aims:

  1. To identify early diagnostic features of JS
  2. To characterize clinical manifestations of JS

After organizing and reviewing all of the detailed information provided by members of the community, we have a good idea of what information is available to use to answer these questions. The next steps in producing a research paper include:

  • (1) Creating tables and filling them with the analyzed data;
  • (2) using that data to make graphics that communicate the results; and
  • (3) writing the paper explaining the data in the tables and graphics as well as any important information that did not fit or is better explained with text.

A PDF with all of the tables we are considering is attached with detailed explanations. . But we need your input! The tables below will gather data on developmental skills and sensory and behavior challenges. What do you think of these tables? Are there specific things you think should be included here? How can we make the data the most useful for you? Thank you for sharing your thoughts!

Matthew Smith's picture

Thanks for the input, all, and I agree this is a great addition. I'm showing in our latest data  that 186 responses were registered for this question.

Maura Ruzhnikov's picture

This is a reply to both yours and Josh's comments Brett-- thank you for this suggestion, I like the idea of reporting what methods of communication children were

Brett Elliott's picture

Yes I believe that would definitely be helpful.

Research Plan

Ann Chang's picture
Discussion Topic Status: 
Open for Discussion

Study Aims and Significance

Matthew Smith's picture

It is going to be exciting to see what can be learned from the aggregated data in JS-LIFE.

Brett Elliott's picture

I think that sounds perfect, can't wait to see how the data adds up!

Maura Ruzhnikov's picture

Hi Josh!

What are your questions on diagnosing and treating Joubert Syndrome?

Ann Chang's picture
Discussion Topic Status: 
Open for Discussion

Ideas:

  • What are unanswered questions about how children and adults are diagnosed?
  • What are concerns about current treatment options?

 

Susan Friedman's picture

There seem to be alot of behavioral challenges with Joubert's. What I can deteremine and have observed over all of the long years is that, most of those behaviors come

taka's picture

Hi Dana.

Thank you.My son gets the therapy.

Ⅰ did not find children with joubert syndorome like my son .

Dana Knutzen's picture

Hi Taka,

How does Joubert Syndrome impact individuals and families?

Ann Chang's picture
Discussion Topic Status: 
Open for Discussion

Ideas:

  • Is there more information needed about the type of symptoms that occur?
  • How do specific symptoms impact activities (e.g. educational, social, work)?
Brett Elliott's picture

I wouldn't say it is part of Joubert syndrome per say,  it would be more a risk of having a child with low muscle tone in general and adaptive behavior (I.e.

Susan Friedman's picture

Wanted to ask a question that no one can seem to answer.  Our daughter has been having issues (suddenly) with pain in her hips, legs and feet. She has walked with a wi

Brian Sidella's picture

Lindsey,