Research Developments

Research Developments
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

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Research Developments

Research Developments
Ellen Burns, Vice President

Khemissa reported in January on her work during the preceding few months. We are happy to report that two people have been hired to assist Khemissa in her work. Dr. Chenyan Wu is helping with several projects at the Day Lab and is being assisted by laboratory technician Lianchun Wu. They are working in Buffalo at the Roswell Park Cancer Institute to make use of the special robotics and other resources there.

Khemissa had already examined and excluded all the known genes in the area of Chromosome 9 that have been identified as containing the gene causing our family disease. Now she is working on identifying other (novel) genes that are in this region. To do this, she must use known artificial chromosomes and match them up, like pieces of a puzzle, to cover the area that is suspect. She has just completed this task! This is a big step forward.

The researchers can now estimate the size of the responsible region to be less than 2.5 million base pairs. Although that sounds like a big number, when we started this search, we were looking at 3 billion base pairs! Our region may contain

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