Latest News
-
The Myhre Syndrome Foundation is launching a first-of-its-kind physiologic monitoring pilot for individuals living with Myhre syndrome. Learn more here
-
We're so excited to announce our very first community camp, happening at Camp Cole in South Carolina from Friday, August 20th to Sunday, August 22nd, 2027! Find out more here
-
Haley spent decades wondering about her symptoms, and a routine screening resulted in her Myhre syndrome diagnosis. Read about Haley’s journey here and prepare to be inspired!
-
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!
What do we do?
The Myhre Syndrome Foundation unites and supports patients and families through community, education, and shared knowledge. We fund research and connect clinicians and scientists across borders to accelerate the science toward treatments, with patients and families at the center of everything we do.
Myhre Syndrome
Myhre syndrome is an extremely rare genetic disorder, caused by a mutation in the SMAD4 gene. There are fewer than 200 confirmed cases of Myhre syndrome worldwide, and the 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.
