The MSF Research Roadmap is a patient and family-led effort that sets out our research goals over the next five years.

It was created following consultation with patients and families via surveys and focus groups, as well as industry experts, and including members of the MSF Professional Advisory Board.

It provides strategic direction when we award future grants to researchers but also guides us as we apply for grants from private foundations, Government organizations and institutions that will accelerate our goal to find treatments, and one day a cure.  

Download the full Myhre Syndrome Foundation Research Roadmap, and see projected timelines, costs, and community focused summaries for each research goal.  

The research goals meet the primary needs of our community and addresses their priorities including researching cardiovascular complications, fibrosis and scar tissue response, and drug repurposing opportunities.

Our research goals focus on:

• Basic research to determine the mechanisms at a cellular level responsible for manifestations of Myhre syndrome.

• Establishing and characterizing human cell lines for Myhre syndrome to enable drug discovery and therapeutics.

• Identifying and testing potential therapies utilizing animal models, in preparation for clinical trials.

• Facilitating patient data collection and analysis through each life stage.

• Facilitating the expansion of Myhre Clinics (two pilot clinics to be identified).