NIH funds research projects at Genetic Center
November 9, 2009
Greenwood Genetic Center has received two grants from the National Institutes of Health to continue and expand its participation in a network of scientists nationwide studying rare genetic diseases.
The research done by 19 groups of researchers will explore the natural history, epidemiology, diagnosis and treatment of more than 95 rare diseases.
Rare diseases are defined as diseases or conditions affecting fewer than 200,000 persons in the United States. About 6,500 such disorders have been identified.
The Greenwood Genetic Center has participated in NIH-sponsored research on rare diseases since 2003. Dr. Steven Skinner has led the Genetic Center’s efforts.
Skinner’s team has focused on two projects. Study of the natural history of Rett syndrome, an autism disorder that affects girls, is the larger of the two projects. More than 800 girls are enrolled.
The second project is a treatment trial for Angelman syndrome, a genetic disorder with features of autism and intellectual disability affecting both boys and girls. More than 150 children are participating in the Angelman treatment trial.
Beginning this year, Dr. Sara Cathey will lead the Center’s collaboration with a second group to conduct clinical research in a different group of genetic disorders known as lysosomal diseases. Cathey will focus on the natural history of a subset of lysosomal diseases called the glycoproteinoses.
The glycoproteinoses include nine different rare genetic disorders. Individuals affected by these progressive, disabling diseases have shortened lifespans. Natural history studies are crucial for improving diagnosis and treatment of these diseases.
