New treatments for a rare disease, the Myhre syndrome

Maria J. Macias

Institut de Recerca Biomèdica (IRB Barcelona), Spain

The Myhre syndrome is a rare genetic disorder that affects children and has no cure. Although it is known to be caused by mutations in a gene that plays a crucial role in cell signalling, there’s a lack of effective therapies. Nowadays, the treatment options are focused on managing the symptoms, which commonly aggravate causing complications such as heart defects, intellectual disability, and respiratory problems, making daily life challenging for affected individuals and their families and highlighting the need for new solutions.

Researchers at IRB Barcelona have identified promising compounds that target the faulty gene to modulate its abnormal function. Together with the researchers at the USC they plan to identify additional compounds with improved efficacy. They plan then to test these compounds in cell models, including patient-derived cells, to develop effective treatments.

This project will provide a deeper understanding of the disease and bring hope to patients and their families by developing new innovative therapies that address the root cause of the disorder and can improve the quality of life for individuals with Myhre syndrome.

• José Manuel Brea Floriani, University of Santiago de Compostela, Spain
  Asociación Síndrome de Myhre Spain, Madrid, Spain

Going Beyond Traditional Therapies to Tailor TGF-β and SMAD Regulation in Pediatric Rare Diseases

€771.800,00