Our mission is to accelerate the search for targeted treatments and gene therapies, while ensuring comprehensive, dignified, and technologically advanced care for patients and their families
To become the premier global accelerator for research into BAFopathies—with an urgent focus on ACTL6B mutations.
We serve as a vital bridge connecting scientific excellence, technological innovation, and the daily needs of patients—ensuring genetic discoveries translate into tangible therapies so no family ever faces this diagnosis alone.
We know the research that needs to be done: Antisense Oligonucleotide (ASO) technology stands out as the ideal candidate.
This technique allows us to modulate gene expression through a drug designed to “silence” or “skip” the mutated allele (the one functioning incorrectly). By doing so, we enable the healthy gene to work without interference, restoring essential biochemical processes. It is an extraordinary tool with the potential to transform the treatment of genetic diseases that, until today, had no alternatives.
Our Mission in Numbers
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Outreach Initiatives 2027 / 2028
We firmly believe that an informed community is the most powerful engine for change. Therefore, the foundation will drive outreach initiatives tailored to affected families to bridge the gap with scientific knowledge, clearly and accessibly explaining how current research can offer real answers and hope. We want to show you how every family can get actively involved in this process: from donating biological samples and participating in clinical studies to directly driving scientific progress. When we come together and understand the value of our contribution, we accelerate the arrival of new therapies and shorten the path to directly improving our patients’ quality of life.
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Patients 2027 / 2028
At our foundation, we know that every day counts for families after receiving an ultra-rare diagnosis. That is why we do not simply connect patients with science—we centralize the essential biological resources required to accelerate medical research. We coordinate directly with families to collect DNA and fibroblast samples from those affected, building the biobank necessary for the scientific community to develop disease models and design gene therapies or targeted drugs tailored to our mutation. Without data and cellular models, science cannot happen; your collaboration is the piece that activates the journey toward a real treatment.
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Scientific Projects 2027 / 2028
At the foundation, we will drive scientific projects focused on the development of advanced therapies. In our scientific validation projects for individualized ASO therapies, we will use DNA samples from index patients to perform long-read sequencing, enabling us to identify target sites for antisense oligonucleotides (ASOs). Likewise, patient-derived fibroblast samples will be used to generate relevant cellular models, such as induced pluripotent stem cell (iPSC)-derived neurons, which are essential for deciphering disease mechanisms and evaluating candidate ASOs. In parallel, we will conduct natural history studies on diseases associated with mutations in nBAF complex genes, starting with the ACTL6B gene—an indispensable step toward understanding clinical progression and validating future therapeutic trials.