At the 2024 International Myhre Family Conference, we collected over 30 samples from people with Myhre and their siblings.

We are indebted to them for advancing research and knowledge about Myhre syndrome.

To learn how Myhre syndrome progresses, we need to collect new samples each year from our cohort. If you have given a sample or want to give your first sample, you can visit one of the roadshows below. Read more here

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!

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.