Dr. Miguel Seabra

Dr. Miguel Seabra has studied Choroideremia for over two decades.  His laboratory focuses its work on the cellular and molecular basis of disease to develop a greater understanding of disease development and progression.  His laboratory was the first grant recipient from the CRF and continues his work on Choroideremia.  During this time, Dr.  Seabra produced the first mouse model for Choroideremia, which has enabled scientists to study the disease and its progression more effectively in a laboratory setting.  His laboratory also co-developed the gene replacement therapy in collaboration with Professor Robert MacLaren in Oxford – using a deactivated virus called AAV-2 to deliver a healthy copy of the Choroideremia gene into diseased cells – that is currently undergoing clinical trials in Oxford, England sponsored by the University of Oxford.  The most recent work from the Seabra laboratory involves the use of mouse stem cells to create photoreceptor and/or RPE cells that could be transplanted back into the mouse retina to restore vision.