Worldwide Research

Funds generated by the CRFC will support the research to find a cure for choroideremia. The following summarizes some recent successes in the search for a cure or treatment.

Dr. Miguel Seabra at Imperial College in London in the UK identified the REP-1 gene defect that causes choroideremia and has created a choroideremia mouse suitable for testing therapies and studying disease progression. Pre-clinical trials are currently underway.

Dr. Ian MacDonald while at the University of Alberta in Edmonton, Alberta developed a gene-based blood test capable of identifying carriers and affected persons. Clinical and lab work continues.

Dr. K. Alexandrov at the Max-Planck-Institute in Dortmund, Germany is researching to determine if an alternative protein REP-2 can be modified to take the place of defective REP-1

Dr. Jean Bennett at the Scheie Eye Institute, University of Pennsylvania in Philadelphia, has done the preliminary work of combining a REP-1 gene with a virus delivery system and confirmed that at least in a test tube, a replacement gene can be delivered to human tissue. These are the first steps towards gene therapy treatment.

These are some of the people working on understanding the disease and searching for a cure.