The Myhre Syndrome Foundation has joined more than 160 rare disease advocacy organizations in supporting a petition for rulemaking submitted to the U.S. Food and Drug Administration by the Haystack Project.

Hollis from Arkansas has found her passion for pageants and is thriving. With multiple titles over the last 12 months, she has just won another state title on the Cinderella pageant circuit, competing against typical contestants. This latest win will see her compete in the Cinderella Internationals in Texas in July.

At MSF, we’re delighted to announce that Armelle Pindon, our Chief Scientific Officer, is part of the external advisory committee for the 3D-MOFIB program at NCATS (The National Center for Advancing Translational Sciences), a US government research agency under the National Institutes of Health (NIH). 

The MSF is excited to announce that, thanks to research funding from our community donors, we now have a new mouse model, the p.R496C variant.

The MSF has reached a major milestone in research development: our pre-clinical in vitro platform is now ready! But what does this all mean? We’re happy to break it down for you and use a simple analogy to help bring this to life.

The MSF has been named a founding member of the New Approach Methodologies Developer Coalition (NAMs-DC), a new initiative led by the Critical Path Institute that is changing how drugs get developed.

MSF is excited to be funding Dr. Mo's Lab for Myhre syndrome SMAD4 specific studies. Learn more about their latest findings.

NORD has expanded its Rare Disease Centers of Excellence Network to 46 institutions nationwide by adding seven new leading medical and research centers committed to improving rare disease care and research.

The Myhre Syndrome Foundation has published the first analysis from our global Patient Registry, with information from 105 individuals across 24 countries. Families reported their own experiences with Myhre syndrome, including symptoms, daily challenges, and quality of life. This is the largest collection of Myhre syndrome data ever gathered, and it reflects real-world experiences directly from our community. Read more!

The American Journal of Medical Genetics recently published Patrick’s story of waiting for his Myhre diagnosis. This narrative is based on a review of medical records, personal experiences in the care of a remarkable patient, and family interviews.