Ellen Burns, Vice President
Research done at the Cecil B. Day Laboratory for Neuromuscular Research has narrowed the area, first described by researchers in Australia, that contains the gene responsible for Hereditary Sensory Neuropathy 1 (HSN 1), the disease that has been in the Deater family for generations.
Dr. Khemissa Bejaoui, the primary researcher, and Dr. Robert Brown, the Director of the Laboratory, have demonstrated personal interest in finding the actual gene that has gone defective. The focus of the work during the last six months has been on analyzing the pattern of expression of the genes that are located in the region identified as containing the causative gene. The actual gene remains unknown.
Because the whole field of genomic research is new and is constantly evolving, the data available to help with the analysis is rapidly expanding. Just keeping up with new information and techniques is time consuming! Khemissa has collaborated with many different groups, including the researchers in Australia, to add to the knowledge already available to her.
By analyzing the pattern of expression in the genes, Khemissa can focus her search on genes that are expressed in nerve cells. Since the disease is a neurological one, the gene that is defective is somehow getting the “wrong information” to the nerve cells.