Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement.

Duke University Medical Center has been awarded a $25 million grant to study the genetic basis of human epilepsy in order to improve our understanding of the biology of epilepsy and to develop new directions for its treatment. Epilepsy affects up to 3 percent of people at some point in their lives. While there is clearly a strong genetic basis, few genes have been found to date.

High cholesterol has been found to contribute to a loss of bone density in two ways, according to researchers at Duke University Medical Center. It blocks formation of new bone cells and it encourages the activity of mechanisms responsible for breaking down bone. The findings, from studies on mice, open new possibilities for the treatment and prevention of osteoporosis and highlight a possible new way that cholesterol-lowering statin drugs may improve bone health.

For years, researchers have published papers that associate chronic stress with chromosomal damage. Now researchers at Duke University Medical Center have discovered a mechanism that helps to explain the stress response in terms of DNA damage. “We believe this paper is the first to propose a specific mechanism through which a hallmark of chronic stress, elevated adrenaline, could eventually cause DNA damage that is detectable,” said senior author Robert J.

Michael Cuffe, M.D., MBA, vice president of Ambulatory Services and chief medical officer of the Duke University Health System (DUHS), has named Adam Perlman, M.D., MPH, the executive director of Duke Integrative Medicine.

Duke University Medical Center researchers have found that a “fountain of youth” that sustains the production of new neurons in the brains of rodents is also believed to be present in the human brain. The existence of a vital support system of cells around stem cells in the brain explains why stem cells by themselves can’t generate neurons in a lab dish, a major roadblock in using these stem cells for injury repair

An occasional nuisance men endure to check for prostate cancer, the digital rectal exam may have heightened importance for those who are obese. Researchers at the Duke Cancer Institute and elsewhere have found that the doctors’ office exam may be better at detecting advanced prostate tumors in heavy men than in their normal-weight counterparts