Our research urgency focuses on the neuron-specific subunit of the BAF complex, encoded by the ACTL6B gene (also known as BAF53b). This complex is critical for gene expression, genome integrity, and activity-dependent neuronal growth.
The Clinical Impact of ACTL6B
Alterations in this gene cause severe clinical phenotypes. Heterozygous de novo variants cause an intellectual developmental disorder (IDDSSAD).
The Reality for Patients
This diagnosis translates into severe intellectual and speech disabilities, autism spectrum disorder, and severe mobility impairments.
The Scope of BAFopathies
We are also expanding our collaborative framework to related disorders caused by mutations in other subunits of the BAF complex (such as ARID1B, ARID1A, SMARCA2, among others), which share clinical phenotypes.
Collaborating with Multiple Research Centers
We are already in contact with numerous scientific institutions dedicated to the study of rare diseases. We manage the collection of information and data from families, as well as fundraising, so that these centers can advance their research.
Research Centers
