Jennifer Stewart joins the Myhre Syndrome Foundation as Executive Director, bringing a diverse background in non-profit operations, program management, and community advocacy.

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! 

My Story Begins Here
My name is Haley Murray. I am 31 years old and live in California. I am a high school science teacher for an online independent study program, and I was diagnosed with Myhre syndrome as an adult at 29 years old, just two years ago. Like many adults with rare diseases, I spent decades searching for answers without realizing they were all connected. Looking back now, I can finally see how all the pieces of my life fit together.

The Myhre Syndrome Foundation has joined more than 160 rare disease advocacy organizations in supporting a petition for rulemaking submitted to the U.S. Food and Drug Administration by the Haystack Project.

Hollis from Arkansas has found her passion for pageants and is thriving. With multiple titles over the last 12 months, she has just won another state title on the Cinderella pageant circuit, competing against typical contestants. This latest win will see her compete in the Cinderella Internationals in Texas in July.

At MSF, we’re delighted to announce that Armelle Pindon, our Chief Scientific Officer, is part of the external advisory committee for the 3D-MOFIB program at NCATS (The National Center for Advancing Translational Sciences), a US government research agency under the National Institutes of Health (NIH). 

The MSF is excited to announce that, thanks to research funding from our community donors, we now have a new mouse model, the p.R496C variant.

The MSF has reached a major milestone in research development: our pre-clinical in vitro platform is now ready! But what does this all mean? We’re happy to break it down for you and use a simple analogy to help bring this to life.

The MSF has been named a founding member of the New Approach Methodologies Developer Coalition (NAMs-DC), a new initiative led by the Critical Path Institute that is changing how drugs get developed.

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.

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.

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 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.

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.