Our aim is to uncover the genetic underpinnings and understand how mutations in recognized genes cause these diseases. Currently, there are no effective treatments for patients affected by these hereditary conditions. To meet this urgent need, we are developing preclinical models which faithfully recapitulate the disease pathology in the affected tissue. These models will offer opportunities to interrogate the pathogenicity of identified genetic variants, explore the underlying molecular mechanism, and serve as platforms for drug screening.