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. This technique allows her to concentrate on the genes that are most likely to be involved in the disease. The work takes a great deal of time and is exacting.
For six months Khemissa had a student helping with the project as a laboratory technician. He is no longer at the lab, and we were not able to financially support a technician, as we had hoped. Khemissa, with Dr. Brown’s help, has applied for additional grant money from Muscular Dystrophy Association. She hopes to apply for a large grant from the National Institutes of Health later this year. There is great competition for these grant monies, but her previous work puts her in a good position to qualify.
The complexity of the genome is hard to imagine. It has been said that “if we decoded your genome–the sequence of the DNA in your chromosomes–and you could read one letter of the genetic code per second, it would take you over 100 years to read your own genetic code.” The section of “chromosome 9q22” that the researchers are looking for that will unlock the mystery of the “Deater disease” is a piece of the whole human puzzle. We are blessed to have knowledgeable researchers and a caring family to continue to search for a cause and cure.