NIH researchers use a new cell model of a rare disease to develop therapeutic compounds By Raymond MacDougall. A team from the National Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
Researchers from the National Human Genome Research Institute and the National Center for Advancing Translational Sciences, both parts of NIH, reported in the June 11, 2014, issue of Science Translational Medicine that they have succeeded in coaxing cultured cells to exhibit the signature traits of the disease.
There are three types of the disease: Type 1 causes enlargement of the liver and spleen, a low number of red blood cells, easy bruising caused by a decreased blood platelets, lung disease, and bone abnormalities such as bone pain, fractures and arthritis.
Researchers then tested a small molecule compound on the damaged cells, which resulted in enhanced levels of the enzyme, reversal of the lipid storage and correction of the cell malfunction.
In a number of previous studies, NHGRI researchers found that GBA alterations that cause Gaucher disease were an important genetic risk factor for developing the more common disorder Parkinson’s disease.
“These new cellular models of Gaucher disease are helping to better explain the disease and may lead to development of new drugs for patients with this condition. In this case, the small molecule compound allowed the cell to ’empty the trash’ that accumulated because of the genetic deficiency of the enzyme,” said Ellen Sidransky, M.D., senior investigator in NHGRI’s Medical Genetics Branch.