We are pleased to announce that Dr. Allison Bradbury has been awarded an NIH (R01) grant to study TBCD in preclinical testing with hope for a clinical trial specific to TBCD gene therapy in our children.

Such critical funding will enhance our research efforts focused on TBCD and comes at a critical juncture, as the recent successes in gene therapy are opening new avenues for treatment and hope for individuals and families affected by these conditions.

We have collected clinical samples from over 20 TBCD patients; connecting with patients across the country and helping to bring their families to Ohio for this critical baseline visit; here they see specialists in Neurology, Genetics, and Physical Therapy to collect data and blood/skin samples. These samples are reprogrammed to function as neurons, called iPSCs (induced pluripotent stem cells) that mimic brain activity for each individual patient based on their specific TBCD gene mutation.

Dr. Mark E. Hester has generated novel cerebral organoids (COs) growing as we speak, which mimic brain activity for TBCD patients! These 3D brain structures (COs) give us unique insight into human-specific aspects of brain development that can’t be analyzed using animal models. This holds valuable potential in screening new gene therapies for patients with Neuro developmental disorders.

We have connected with over 50 TBCD families worldwide; diligently working to bridge the gap in language barriers that limit data sharing and access to treatment globally.

We are thrilled to partner with Citizen Health to create a first generation natural history study for TBCD. Natural history studies are critical to advance understanding of unstudied rare diseases. The Citizen team collects, organizes and synchronizes clinical data from EVERY patient’s medical records to deliver a dataset without burdening patients with clinic visits or ANY cost!

We are extremely lucky to receive such valuable partnered support as there is currently a waitlist to join.

Please contact us if you are newly diagnosed and have not connected with Citizen - we are happy to help every step of the way!

We were awarded the CPAM Grant through UAB Precision Medical Institute to develop Landon’s specific preclinical model with BOTH of his mutations. This will let us study his disease in more depth. We will provide updates on the Landon model soon.