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.

Genetically modified T cell therapies have been in the news for their ability to improve outcomes for cancer patients, and a recent longitudinal study confirmed that serious complications were extremely rare.

We are pleased to announce that Christiana Thomas has been appointed as our next Executive Director, succeeding Kate Wears.

Congratulations to Dr. Callewaert and Pr. Cormier-Daire, who have won pretigous awards for their rare disease research.

We are proud to announce a $450,000 grant to fund a groundbreaking research project designed by Genethon, collaborating with Professor Valérie Cormier-Daire (Genomic Medicine Service for Rare Diseases, Necker-Enfants Malades Hospital) in France.

We’re thrilled to announce a special Rare Disease Day 2025 event—the Myhre Masterpieces Art Auction! We’re inviting members of the Myhre community to create one-of-a-kind artworks that will be featured in our art auction.

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.

In June, we announced we'd be able to provide researchers with patient-derived iPS cell lines to accelerate our understanding of Myhre syndrome.

Over the last few months, we’ve outlined our plans to accelerate treatment discovery and the potential pathway to a cure for Myhre syndrome.

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

In March 2024 we formed a Discovery Committee to discover, develop, and make available treatments or a cure for Myhre syndrome.

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.

Unless you are a medical professional, chances are you have not heard of The International Classifications of Diseases, 10th Revision, also known as ICD-10. It is really important that the correct ICD-10 code is stated on a medical record.

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.

Patti Schultz, Myhre Syndrome Foundation Board Member visited MassGeneral Myhre Clinic in Boston in November, 2021, and was happy to share everything she learnt.

The Myhre Syndrome Foundation has today launched the first International Research Grant Program to support the advancement of knowledge of Myhre syndrome.

This article takes you through what it takes to create a clinic, what they can and can’t do and the options available to access the clinic if it’s not in your home nation.