The collaboration aligns IMBA with scientists from biotech startup a:head bio AG, University College London (UCL), and Foundation for ARID1B Research (FAR), each offering unique expertise and dedication to the shared goal of improving outcomes for affected children.
UCL, which has made significant discoveries in the field, is now preparing to translate its research into practical solutions for patients. “Our mission is to ensure that promising scientific discoveries reach the patients who need them most,” said Gabriele Lignani, Professor of Translational Neuroscience, Research Department of Epilepsy at UCL. “This collaboration marks a critical step toward developing impactful approaches for ARID1B-related disorder.”
To evaluate potential treatments, IMBA, a pioneer in human brain organoid research, will test them in patient-derived brain organoids. “Cortical organoids allow us to model the disease in a way that closely mimics the affected brain tissue,” explained Jürgen Knoblich, Senior Group Leader at IMBA and Professor for Synthetic Biology at the Medical University of Vienna. “We are excited to contribute our expertise to this urgent cause.”
Supporting the translational pathway, a:head bio AG, which holds key rights to the organoid technology, is providing access to its platform and offering a commercial license option should the therapy advance to market. “This is a role model for how academic and industry partnerships can drive innovation,” said Oliver Szolar, CEO of a:head bio AG. “We are proud to support this initiative and help pave the way for future commercialization.”
At the heart of the collaboration is FAR, led by parents of children affected by ARID1B-related disorder. Their advocacy and funding have been instrumental in bringing stakeholders together. “As parents, we know the urgency of finding effective treatments,” said Gal Lazarus, co-founder of FAR. “This collaboration gives us hope and a voice in shaping the future of care for our children.”
About ARID1B-related disorder
ARID1B-related disorder (ARID1B-RD) is a rare genetic disorder that causes significant development delays and disabilities. Children and adults with ARID1B-RD typically have intellectual disabilities of variable degrees, and may also have autistic features, seizures, delays or (near) absence of speech, as well as daily living and motor impairments. Most individuals with ARID1B-RD require continuous care throughout their lifespan and often struggle to live independently. Variants in the ARID1B (AT-Rich Interaction Domain 1B) gene are the most common cause of Coffin-Siris syndrome.