Researchers often struggle to find funding to study rare diseases; yet those conditions are no less real for patients and their caregivers. The BeHEARD Rare Disease Science Challenge — sponsored by the Rare Genomics Institute — provides a much-needed platform for investigators to vie for funding for rare disease projects. For a recent BeHEARD challenge, Taconic donated a custom-generated model of Kabuki syndrome, a rare genetic disorder that causes intellectual disability, stunted growth, immune system dysfunction and hearing loss. Using CRISPR gene editing, Taconic scientists developed and bred a mouse that carries a genetic mutation associated with Kabuki syndrome. Having a model that closely represents the patient experience helps researchers translate findings from the lab to the clinic.
Researchers at the Johns Hopkins University School of Medicine are using this valuable tool to study whether the therapies they're developing can reverse disability in Kabuki syndrome patients. It's a tremendous step forward, offering the hope of effective treatments for what's been considered an untreatable disorder.