Rare Disease Modeling & Cell and Gene Therapy
Our stem-cell derived organoids are not just developmental models—they form the backbone of translational efforts. We collaborate with clinicians and clinical researchers at Boston Children’s Hospital to model congenital disorders of hearing, balance, and vision (such as Usher syndrome; see Mauriac et al. 2025) as well as severe skin-blistering diseases (such as Epidermolysis bullosa).
By modelling patient-derived iPSCs in our organoid systems and applying gene-editing or small-molecule screens, we aim to:
Understand how developmental defects manifest at the tissue and cellular level.
Identify novel therapeutic targets or regenerative routes.
Build proof-of-principle organoid-derived grafts or cell-products for future repair of sensory or skin-tissue damage.
Our translational work is funded by the Pipeline for Usher syndrome research (PUSH) initiative at the Usher Syndrome Society and grants from the Epidermolysis Bullosa Research Partnership (EBRP). We’re thankful to have clinical collaborators across the Departments of Otolaryngology, Plastic and Oral Surgery, Dermatology, Pediatrics, and Neurology at Boston Children’s Hospital.