Latest News
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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… Read more here
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Katie Rosen, a second-year genetic counseling student at MGH Institute of Health Professions, is looking to interview caretakers of people with Myhre syndrome or adults with Myhre syndrome for a research study.
Participation consists of a 60-90 minute, audio-recorded interview about your/your child’s symptoms and treatments to learn how these impact you and your family. By sharing your story, you’ll help researchers determine what matters most to the Myhre syndrome community.
Together, with input from patients, caregivers and other healthcare providers, we hope to inform future clinical trial outcome measurements and improve health care management of individuals with rare, genetic neurological disorders.
If you are interested in participating, please fill out this survey!
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We’re excited to share the first published study from the Myhre Syndrome Patient Registry—the largest collection of Myhre syndrome data ever gathered. Find the article here.
What do we do?
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
We foster collaboration among all relevant stakeholders to build a strong, global community in order to advance research, as well as support, educate and advocate for those impacted by Myhre syndrome.
Myhre Syndrome
Myhre syndrome is an extremely rare genetic disorder, caused by a mutation in the SMAD4 gene. There are less than 200 confirmed cases of Myhre syndrome worldwide and true numbers are unknown. We hear of new cases each year as awareness grows.
You can see a map here of where people with Myhre and their families live.
