We are pleased to announce that Christiana Thomas has been appointed as our next Executive Director, succeeding Kate Wears.
Read moreAdvancing Research and Hope: Exciting Development in Fibrosis Research
Encouraging Progress in Fibrosis Research
Rare Disease Day 2025 is the perfect day to see an announcement on the new advancements in understanding and treating fibrosis. A new initiative led by our Scientific Advisory Board member, Dr. Maria Macías, and her team at IRB Barcelona is focusing on developing potential therapies for fibrosis-related diseases like Myhre syndrome. Their work is centered on identifying innovative treatment strategies that target key molecular mechanisms involved in disease progression.
Dr. Macías’ research explores how specific proteins in the SMAD family influence fibrosis development. Her team is currently working on an initiative aimed at creating a new class of drugs designed to slow the progression of fibrosis. By refining drug design through structural analysis, they hope to develop a more precise and effective approach to managing Myhre syndrome.
While this research holds significant promise for Myhre syndrome, it also has wider implications for conditions such as idiopathic pulmonary fibrosis and cardiac fibrosis. Developing targeted treatments could lead to advancements that benefit a broad range of patients with fibrosis-related organ failure.
We remain committed to championing research that can lead to meaningful medical breakthroughs and are collaborating with Maria Macias and IRB Barcelona for our preclinical projects. We look forward to continued progress in developing therapies that can improve the outcomes for Myhre syndrome patients worldwide.
This initiative is supported through funding from the Agency for Management of University and Research Grants (AGAUR). We extend our appreciation to the dedicated researchers and supporters working toward innovative solutions for fibrosis-related diseases.
Read the full press release and see a video from IRB Barcelona here
Medical Advisory Board Doctors Recognized for their Research Contributions
Congratulations to Dr. Callewaert and Pr. Cormier-Daire, who have won pretigous awards for their rare disease research.
Read moreResearch Grant to Explore New Therapy for Myhre Syndrome
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.
Read moreMyhre Masterpieces Art Auction for Rare Disease Day
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.
Read moreExciting News: Myhre Syndrome Clinic Opens at Stanford!
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.
Read moreMSF Personal Essay in the American Journal of Medical Genetics
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.
Read moreiPSCs in Development for Myhre Syndrome
In June, we announced we'd be able to provide researchers with patient-derived iPS cell lines to accelerate our understanding of Myhre syndrome.
Read moreResearch Tools
Over the last few months, we’ve outlined our plans to accelerate treatment discovery and the potential pathway to a cure for Myhre syndrome.
Read moreThe Power of Patient Data to Accelerate Research
There are numerous avenues to get involved in research and provide data, learn more here.
Read moreNew Discovery Committee to Advance Research
In March 2024 we formed a Discovery Committee to discover, develop, and make available treatments or a cure for Myhre syndrome.
Read moreIntroducing the new Clinical Research Assistant at MGH
Get to know Maggie Brand, the new Clinical Research Assistant at the Myhre Clinic at MGH.
Read moreHelping School Providers with Best Practices
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.
Read moreGenetics Refresher from Dr Angela Lin
Dr Angela Lin, co-director of the Myhre Syndrome Clinic at Massachusetts Hospital in Boston, provided a genetics refresher.
Read moreFunding Clinics to Advance Knowledge of Myhre Syndrome
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.
Read moreResearch Team Retreat - Representing Myhre
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.
Read moreBoard News – Leadership Team
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.
Read moreLosartan Pilot Clinical in Myhre – Award Winning Paper & Pediatrician
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.
Read moreICD-10 Coding for Myhre Syndrome
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.
Read moreEvidence-based Guidelines (EBG) – Pragmatic recommendations for clinical care while seeking the “gold standard”
Ever wondered when Myhre syndrome guidelines will be published? Learn here about the requirements, process, and timelines.
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