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Myhre Syndrome Foundation hosts inaugural in-person conference, offering hope and support to the community

Philadelphia, PA – 5 June 2024 – The Myhre Syndrome Foundation (MSF) is excited to announce its inaugural patient and family conference, set to take place at the Children’s Hospital of Philadelphia on 27 and 28 July 2024.

This landmark event will bring together individuals and families affected by Myhre syndrome, a rare and life-threatening genetic disorder. With only 200 individuals diagnosed worldwide, opportunities to gather in person are incredibly rare.

Jessica Simkins, mum to Clark, 7, with Myhre syndrome, shared her enthusiasm: “Having a rare disease can be so isolating. We are looking forward to connecting, sharing, and learning. Clark is eager to meet others and is especially excited about the pajama party planned for Saturday evening!”

Clark and his family

Philadelphia was chosen for its international accessibility and the proximity to the Children’s Hospital of Philadelphia (CHOP), which has graciously offered to host the event on their campus. The conference provides a valuable opportunity for specialists to share their findings and collaborate with peers.

Philadelphia is also emerging as a hub for cell and gene therapy companies, which is crucial for advancing treatments for rare diseases like Myhre syndrome. In line with this, MSF has issued an open request for proposals to develop innovative gene editing technologies to correct the mutation in the SMAD4 gene.

Guests from around the globe—including the UK, Germany, and Australia—will come together to focus on individuals living with Myhre syndrome. Attendees will hear about the latest advancements in Myhre syndrome research and treatment from medical experts across multiple fields, including genetics, cardiology, pulmonary, oncology, gynecology, research and immunology.

More than 100 participants are expected, including 27 Myhre syndrome patients. They can look forward to a diverse agenda of activities and sessions tailored to the unique needs of the Myhre community. In addition to enriching educational sessions, attendees can engage in physical therapy sessions, one-on-one meetings with Myhre experts, and explore a mini poster hall showcasing cutting-edge research updates and registry data.

The weekend will also feature a family pajama party and disco on Saturday night, followed by a fun-filled afternoon at the Philadelphia Zoo on Sunday.

The Myhre Syndrome Foundation urges individuals to consider donating to advance research initiatives and programs to enhance the quality of life for those with Myhre syndrome. For more information about Myhre syndrome and to donate, please

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