The main focus of the patent
The invention deals with the development of a mutated gene for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein that can be administered to cystic fibrosis patients through gene therapy. The resulting altered protein is associated with an increase of chloride channel function thereby alleviating the symptoms of the disease.
Background and limited technical details
Cystic fibrosis is the most common genetic disease in the United States causing progressive disability and often, early death. It is caused by a defect in the gene coding for the CFTR protein resulting in an altered composition and viscosity of secretions in the pancreas and/or the lung. The blockage of the pancreatic duct by the thickened secretions in patients impairs digestion requiring external administration of the pancreatic enzymes to prevent malnutrition. In the lung, the altered composition of the secreted fluid favors bacterial growth leading to frequent infections, and the thickness of the mucus prevents effective clearing from the airways causing destruction of lung tissue with loss of function.
Although the diseased gene in cystic fibrosis has long been identified as CFTR, initial therapy using the wildtype (normal) CFTR gene did not meet with the expected success due to inflammation caused by viral vectors used to deliver the gene. Alternate safer lipid-DNA complexes of the CFTR gene are of low efficiency and do not transfer the gene of interest into a sufficient number of cells required to alleviate symptoms of the disease.
The current invention involves development of a mutated CFTR gene that results in an altered CFTR protein with an increase in functionality (chloride channel function). As a result, a sufficient correction of the chloride defect can be achieved even with the low efficiency of the safer lipid-DNA complexes when the gene described in the invention is used for gene therapy.
Implications/applications and sectors that are addressed by patent/technology
Cystic fibrosis (CF) is the most common genetic disease of Caucasians in North America, affecting around 1 in 2000 live births in the US. It is ranked as one of the most widespread life-shortening genetic diseases. The U.S. market for the treatment of pulmonary symptoms of cystic fibrosis in 2007 was around $397 million.
History of the Inventors
John Teem was an Assistant Professor of Biology at Florida State University and is currently a Scientist at Florida Department of Agriculture and Consumer Services. He has not been involved in the startup of any prior companies.
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