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.

In 2025, we are proud to continue our long-standing support of Dr. Angela Lin and her team at Massachusetts General Hospital, and to announce the launch of two newly funded clinical sites: one at Stanford Medicine Children’s Health and the other at Texas Children’s Hospital.

To provide the FDA with a comprehensive understanding of Myhre syndrome, including the lived experiences of patients and caregivers, the community met with the FDA in December 2024. The full report is out now.

We are excited to announce the launch of our new partnership with Emory University designed to shed light on the underlying molecular mechanisms of Myhre Syndrome and lay the foundation for future treatments.