We Have a Clear Goal
We involve families in every scientific advancement to improve the quality of life for individuals affected by nBAF complex mutations and their loved ones.
How We Do It
I. Promotion of Targeted Biomedical Research:
Direct funding for researchers and institutions focused on deciphering molecular mechanisms (such as dysfunctions in protein subdomains that interact with actin) and developing advanced therapies for ACTL6B and associated pathologies.
II. Access to Therapies and Comprehensive Care:
Addressing unmet patient needs by facilitating healthcare interventions, essential physical and cognitive rehabilitation therapies to alleviate motor and neurodevelopmental symptoms, and providing ongoing support to families.
III. Innovation and Digital Health:Innovación y Salud Digital:
Developing technological solutions to optimize clinical monitoring for these complex patients, connecting the global BAFopathy community, and democratizing access to medical information.
IV. Awareness and Strategic Alliances:
Creating international consortia with hospitals, universities, and the biopharmaceutical sector to maximize the impact of ACTL6B research.
Join the Scientific Evolution Toward Treatment
We need families to participate so we can formally unite our community and, through their collaboration, advance the comprehensive scientific and clinical program that will allow us, in just a few years, to deploy a viable therapy with the potential to cure the first cases.