Myhre Syndrome Foundation

We are delighted to share the latest Myhre Syndrome Patient Registry data and huge thanks to the Scientific Committee for creating the report. The report includes demographic information and key symptom updates. It represents an incredible 22 countries, and almost half of the entire Myhre syndrome reported population! Remember your data is de-identified. By checking the box to allow MSF to view your updates, we can make reports like this, getting the information back into the hands of patients. View the full report on our website, and if you have any questions, please let us know. https://lnkd.in/gqgjtxFE

Join us on Saturday, 26 October, for our next MSF Family & Patient Research Q&A session. We'll discuss "Beyond TGF-beta: How SMAD4 Shapes Puberty, Autism, and Learning in Myhre Syndrome." Join us in exploring the role of SMAD4 in the brain and endocrine system, focusing on how other receptors influence key manifestations of Myhre syndrome. From puberty to autism, bone growth, and cognitive functions like learning and memory, we’ll explore the impacts that go beyond TGF-beta pathways, such as fibrosis. You’ll leave the session learning more about the importance of understanding how other receptors contribute to the complex presentation of Myhre syndrome. Sign up at https://lnkd.in/gnZTGQb2

Join us on Saturday, 26 October, for our next MSF Family & Patient Research Q&A session. We'll discuss "Beyond TGF-beta: How SMAD4 Shapes Puberty, Autism, and Learning in Myhre Syndrome." Join us in exploring the role of SMAD4 in the brain and endocrine system, focusing on how other receptors influence key manifestations of Myhre syndrome. From puberty to autism, bone growth, and cognitive functions like learning and memory, we’ll explore the impacts that go beyond TGF-beta pathways, such as fibrosis. You’ll leave the session learning more about the importance of understanding how other receptors contribute to the complex presentation of Myhre syndrome. Sign up at https://lnkd.in/gnZTGQb2

Joining the Myhre Syndrome Patient Registry is so important. Learn more here. https://lnkd.in/gmKRrmK2

At MSF, we’re here to support you every step of the way. That’s why we’re committed to listening to your feedback and bringing you the support and resources that truly matter. We’ll send a 10-question survey each year to help us improve and track our progress. Your input is invaluable and helps ensure we meet your needs. Let’s get started with your 2024 feedback! https://lnkd.in/gTYutD4p

Huge thanks to the Patient Advocacy Team for creating this handy wallet-sized Emergency Card. It has crucial information if you are in an emergency and need to brief first responders and emergency teams. We recommend giving these to family members, childcare providers, teachers, and school and university nurses. You can order printed cards via our website and we ship internationally. Or you can print out at home or locally. Order here - https://lnkd.in/gRzf4avF

Last year, we were approached with an opportunity to write a first-person narrative for the American Journal of Medical Genetics on the work we're doing at the foundation. Our Executive Director, Kate Wears, jumped at the chance to raise awareness of Myhre syndrome. Thanks to Dr. Angela Lin and Dr. Lois Starr for partnering with us on this piece. Read the article here - https://lnkd.in/ggTZufJk From left, Kate, our Executive Director, and Board Members Susan, Kathy, Mary, and Anna (Kathy’s daughter and Mary’s sister).

What an incredible Move for Myhre weekend! We had everything from yoga events to bake sales, walks, and runs—all to raise awareness and funds for Myhre syndrome. Your generosity has absolutely blown us away! With our match funder, we’ve raised over $25,000 so far—and donations are still rolling in! Our fantastic board members and staff were out in full force: - Ines, our President, took the whole family on an outdoor adventure to Move for Myhre and was generously supported by her community. - Jessica, our Secretary, baked up a storm for her third annual bake sale, plus teamed up with a local restaurant for a dine-and-donate event. - Matt, our Director, dusted off his running shoes, determined to run further than ever before—and raised lots of money by doing so! - Susan, our Director, held an art show, selling her incredible paintings and donating the profits. - Kathy and Mary, Directors, took a spot at a local pottery fair and sold their yummy baked goods. - Kate, our Executive Director, hosted her second annual cookie sale, with a local bakery also donating proceeds to support us. Send us your pictures and stories from Move for Myhre—we’d love to feature you and give a massive thank you for your support! Now, let’s start planning for Move for Myhre 2025—who’s ready for next year’s challenge?! #MoveForMyhre #ThankYou #CommunityStrong #myhresyndrome #myhresyndromefoundation

Myhre Research Family & Patient Q&A Session 5 is live. In this session, we discuss stenosis and fibrosis, plus take questions from the community on neurodevelopment and autism, GI, and more! Here is theYouTube Playlist of all the sessions. https://lnkd.in/gzTuBVz... Don't forget you can choose captions in over 100 languages on all recordings. #myhre #myhresyndrome #myhresyndromefoundation

Exciting news! We're hosting three virtual community meetings this weekend! First up, dive into an insightful discussion on stenosis in Myhre syndrome with our Chief Scientific Officer, Armelle. Then, join us for a relaxed coffee hour to chat with the community, connect, and share experiences. Find all the details and links at https://lnkd.in/gnZTGQb2 – we can't wait to see you there! #MyhreSyndrome #CommunitySupport #RareDisease