Veena Theendakara, Ph.D.

Jules Stein Eye Institute, UCLA

Project:  To perform research into novel cone photoreceptor gene and mechanisms of
ZBED4, a novel protein with mutations causing cone-rod dystrophy
Summary: Dr. Theendakara and her colleagues have recently identified ZBED4, a novel protein present in the nucleus and cytoplasm of cone photoreceptors. In addition, they found a mutation in the ZBED4 gene associated with disease in patients with cone-rod dystrophy.  The objectives of their work are to investigate the movement of the ZBED4 protein between the nucleus and cytoplasm of cone photoreceptor cells; and to screen patients for mutations in the ZBED4 gene and establish genotype-phenotype correlations for early detection of disease and future intervention.