We’re thrilled to announce the opening of a dedicated Myhre Syndrome Clinic at Stanford University’s Cardiovascular Connective Tissue Clinic in California, USA. This clinic brings together experts in genetics, cardiology, and other specialties to provide personalized care for patients and families while advancing research into Myhre syndrome.

Last year, we were approached to submit an essay for the American Journal of Medical Genetics discussing the work we’re doing at the foundation. Kate Wears, our Executive Director, jumped at the chance to raise awareness and share the foundation’s mission with a wider audience.

There are numerous avenues to get involved in research and provide data, learn more here.

Get to know Maggie Brand, the new Clinical Research Assistant at the Myhre Clinic at MGH.

This is a short guide for educators on how they can support children and young adults with Myhre syndrome. We encourage you to send this link or print this article to give to them.

Dr Angela Lin, co-director of the Myhre Syndrome Clinic at Massachusetts Hospital in Boston, provided a genetics refresher.

Myhre Syndrome Foundation (MSF) is committed to the advancement of Myhre syndrome clinics across the world. Clinics provide vital on-the-ground community support and contribute to ongoing global research.

Dr. Angela Lin and Dr. Mark Lindsay are happy to share this photo showing members of the MGH Myhre syndrome research team at the Cardiovascular Research Center Retreat on November 11, 2022.

We’re excited to announce some leadership team changes at MSF. Kate Wears, moves into an Executive Director role, with overall strategic and operational responsibility for the foundation including programs, expansion, and execution of our mission.

Myhre syndrome is in the headlines, and thanks to Dr Gerarda Cappuccio, who has been selected as the co-recipient of the prestigious 2022 John M. Opitz Young Investigator Award by the American Journal of Medical Genetics.

Ever wondered when Myhre syndrome guidelines will be published? Learn here about the requirements, process, and timelines.

The ultimate goals of Myhre syndrome-related research is multifaceted. There is not only a need to understand the symptoms and how the symptoms present (the pathology of the disease as well as the phenotype or physical appearance of the disease), but there is also a need to develop a specialized treatment plan, consisting of a cure or therapeutic

Today we have published the first set of data from the Myhre Syndrome Foundation Patient Registry. To date, 87 participants have filled out the questionnaire providing a medical history for themselves or on behalf of someone with Myhre.

Myhre Syndrome Foundation has awarded $150,000 in research grants to two awardees that will advance knowledge of Myhre syndrome.

The Myhre community shared their stories in the lead up to Rare Disease Day – inspiring and poignant and we thank you all for your contributions to help raise awareness and understanding.