Gene Silencing Studies

Gene silencing studies being conducted at the University of Massachusetts
By Robert H. Brown, Jr., M.D. PhD.

Dr. Brown reports that “Havisha Karnuam is an outstanding MD-PhD student” in his laboratory, who is being co-mentored by Dr. Brown and “an extremely capable, knowledgeable faculty member, Prof. Anastasia Khvorova, who has many years experience (including patenting relevant inventions) in gene silencing”. Havisha has generated modified oligonucleotides, which are short single stranded DNA or RNA molecules that can be used as tools to study gene function or as therapeutic agents. Oligonucleotides can inhibit expression and induce a blockade in the transfer of genetic information from DNA to protein, thereby “silencing” the gene. The oligonucleotides Havisha has generated silence the gene for the SPT (serine palmitoyltransferase) enzyme, a mutation of which is responsible for HSAN1, in the laboratory. Her research on the gene causing HSAN1 is Havisha’s doctoral work. She has completed one year on this project and will continue this work for about another 3 years. Dr. Brown states that “Dr. Khvorova has been terrific – and has had a pivotal role in Havisha Karnuam’s success.”

This approach, at the level of the disease causing gene, is an entirely different method to seeking a cure for the disease HSAN1. There is precedence in another hereditary disease, however. Lipoprotein lipase deficiency is a different rare autosomal recessive disorder in which people with the disease are unable to metabolize fat particles carried in their blood. The first gene therapy approved by authorities in the western world was achieved when the European Commission approved gene therapy treatment for this disease last year.