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URMC / Labs / Yang Lab / Projects / Elucidating the pathological mechanisms of CaCC-related diseases

Elucidating the pathological mechanisms of CaCC-related diseases

BESTROPHINs and TMEM16s are directly connected to human diseases. For instance, mutations of BESTROPHIN1 (BEST1) cause vision threatening retinal degenerations, while up-regulated TMEM16A activity has been clinically linked to asthma, hypertension and numerous cancers. Therefore, it is of great biomedical and pharmaceutical value to understand how these events translate into physiological abnormalities and ultimately become pathogenic. The main challenges include measuring endogenous channel activity under physiological conditions, and characterizing the functional and structural impacts of genetic mutations. Using multidisciplinary approaches (Li et al. eLife 2017), we are systematically analyzing patient-specific BEST1 mutations in vivo with mutant retinal pigment epithelium (RPE) cells differentiated from pluripotent stem cells and in vitro with purified channels. In the big picture, this line of research can be expanded to other members in the two protein families.

gene complimentation

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