As a physician and a scientist, I study a rare disorder, Gaucher disease. I have been motivated to continue to study Gaucher disease for the past 25 years because I feel that our understanding of basic aspects of this disorder are still lacking, and that my patients with Gaucher disease, whom I have grown to know and love, will benefit from these discoveries.

Parkinson disease is a common disorder that is known to have a complex inheritance. This means that unlike Gaucher disease, which results from mutations in one specific gene, Parkinson disease can have many causes and many genes likely contribute to how the disease presents. Patients with Parkinson disease develop a resting tremor that often begins on one side, but they can also have slowed movements, unstable posture and gait, and at times, dementia. It affects about 1.5% of the population over age 65, and the risk increases with advancing age. There are disorders associated with Parkinson disease called the Lewy body dementias that have similar manifestations, but more progressive dementia.

Continue reading Parkinsons Gaucher story … by Ellen Sidransky M.D. →